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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut C1orf64 149563 broad.mit.edu 37 1 16332490 16332490 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:16332490G>T uc001axn.2 + 2 227 c.159G>T c.(157-159)AAG>AAT p.K53N NM_178840 NP_849162 Q8NEQ6 CA064_HUMAN hypothetical protein LOC149563 53 breast(2) 2 Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) CCCACGGGAAGCAGCTCTCCC 0.572 NA 22 199 5.26018e-13 9.04591e-13 0.001882 1 0 HSPG2 3339 broad.mit.edu 37 1 22174314 22174314 + Silent SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:22174314C>T uc001bfj.2 - 61 7933 c.7893G>A c.(7891-7893)CCG>CCA p.P2631P HSPG2_uc009vqd.2_Silent_p.P2632P NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2631 Ig-like C2-type 12. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CGATCCTGATCGGTGGGGAGA 0.627 NA 6 41 0 0 0.00308 0 0 TMEM200B 399474 broad.mit.edu 37 1 29447669 29447669 + Nonsense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:29447669G>T uc001brn.1 - 2 732 c.672C>A c.(670-672)TAC>TAA p.Y224* NM_001003682 NP_001003682 Q69YZ2 T200B_HUMAN transmembrane protein 200B 224 Pro-rich. integral to membrane 0 Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126) CCTTCAGCGGGTAGCTGTTGA 0.647 NA 3 24 0.004672 0.00522435 0.004672 1 0 C8A 731 broad.mit.edu 37 1 57349256 57349256 + Missense_Mutation SNP G G T rs141666945 TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:57349256G>T uc001cyo.2 + 6 889 c.757G>T c.(757-759)GGC>TGC p.G253C NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 253 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 AGTGACCATCGGCATAGGCCC 0.428 NA 7 69 8.12818e-05 0.000101379 0.001984 1 0 SELENBP1 8991 broad.mit.edu 37 1 151338767 151338767 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:151338767C>A uc001exx.2 - 7 874 c.827G>T c.(826-828)CGC>CTC p.R276L SELENBP1_uc010pcy.1_Missense_Mutation_p.R318L|SELENBP1_uc001exy.2_Missense_Mutation_p.R173L|SELENBP1_uc001exz.2_Missense_Mutation_p.R173L|SELENBP1_uc010pcz.1_Missense_Mutation_p.R214L|SELENBP1_uc009wms.2_Missense_Mutation_p.R112L|SELENBP1_uc009wmt.2_Missense_Mutation_p.R173L|SELENBP1_uc001eya.2_Missense_Mutation_p.R212L|SELENBP1_uc009wmu.2_Missense_Mutation_p.R173L NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 276 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTTGTAGAAGCGCTGGATGGT 0.572 NA 34 132 3.11337e-16 5.56485e-16 0.002836 1 0 SCAMP3 10067 broad.mit.edu 37 1 155227303 155227303 + Missense_Mutation SNP C C G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:155227303C>G uc001fjs.2 - 6 916 c.663G>C c.(661-663)ATG>ATC p.M221I RAG1AP1_uc010pey.1_Intron|FAM189B_uc001fjm.2_5'Flank|FAM189B_uc001fjn.2_5'Flank|FAM189B_uc001fjo.2_5'Flank|FAM189B_uc001fjp.2_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjr.2_Missense_Mutation_p.M68I|SCAMP3_uc001fju.2_Missense_Mutation_p.M207I|SCAMP3_uc001fjv.2_Missense_Mutation_p.M221I|SCAMP3_uc001fjt.2_Missense_Mutation_p.M195I NM_005698 NP_005689 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 isoform 1 221 post-Golgi vesicle-mediated transport|protein transport integral to membrane ovary(3) 3 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AAGCCTTATACATGGGGCGGT 0.547 NA 3 27 0 0 0.004672 0 0 ASH1L 55870 broad.mit.edu 37 1 155408566 155408566 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:155408566G>A uc009wqq.2 - 5 5860 c.5380C>T c.(5380-5382)CAT>TAT p.H1794Y ASH1L_uc001fkt.2_Missense_Mutation_p.H1794Y NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1794 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTCTTGATATGATGGGGGGAA 0.433 NA 10 155 0 0 0.006214 0 0 PYHIN1 149628 broad.mit.edu 37 1 158911793 158911793 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:158911793C>A uc001ftb.2 + 5 851 c.606C>A c.(604-606)CAC>CAA p.H202Q PYHIN1_uc001ftc.2_Missense_Mutation_p.H193Q|PYHIN1_uc001ftd.2_Missense_Mutation_p.H202Q|PYHIN1_uc001fte.2_Missense_Mutation_p.H193Q NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 202 HIN-200. cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) CCAACCGTCACGCAACTGCCA 0.373 NA 9 54 3.86212e-05 4.92529e-05 0.008291 1 0 CD244 51744 broad.mit.edu 37 1 160801171 160801171 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:160801171C>A uc009wtq.2 - 9 1257 c.1079G>T c.(1078-1080)CGC>CTC p.R360L CD244_uc001fxa.2_Missense_Mutation_p.R355L|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.R263L NM_016382 NP_057466 Q9BZW8 CD244_HUMAN CD244 natural killer cell receptor 2B4 360 Cytoplasmic (Potential). blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CAGCTCTTTGCGGCTCAATCG 0.433 NA 9 124 1.08611e-07 1.58043e-07 0.000978 1 0 OLFML2B 25903 broad.mit.edu 37 1 161953806 161953806 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:161953806C>A uc001gbu.2 - 8 2336 c.1912G>T c.(1912-1914)GAT>TAT p.D638Y OLFML2B_uc001gbt.2_Missense_Mutation_p.D121Y|OLFML2B_uc010pkq.1_Missense_Mutation_p.D639Y NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 638 Olfactomedin-like. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) AAGCCCTCATCGTCCAGGGCC 0.632 NA 6 62 0.00116845 0.00133958 0.001168 1 0 TNN 63923 broad.mit.edu 37 1 175086110 175086110 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:175086110G>A uc001gkl.1 + 10 2268 c.2155G>A c.(2155-2157)GTG>ATG p.V719M NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 719 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GACCGACCGGGTGACAGAGAA 0.527 NA 21 121 0 0 0.002299 0 0 FAM5C 339479 broad.mit.edu 37 1 190067232 190067232 + Silent SNP C C G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:190067232C>G uc001gse.1 - 8 2449 c.2217G>C c.(2215-2217)GTG>GTC p.V739V FAM5C_uc010pot.1_Silent_p.V637V NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 739 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GGATCCTCACCACCTCACTAG 0.438 NA 12 105 0 0 0.000978 0 0 KCNT2 343450 broad.mit.edu 37 1 196309558 196309558 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:196309558G>T uc001gtd.1 - 16 1756 c.1696C>A c.(1696-1698)CAA>AAA p.Q566K KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.Q516K|KCNT2_uc001gtf.1_Missense_Mutation_p.Q566K|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.Q566K|KCNT2_uc001gth.1_Missense_Mutation_p.Q87K NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 566 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TGCTGGTCTTGGTTTTTAAAT 0.353 NA 11 72 1.08611e-07 1.58043e-07 0.000978 1 0 LAMB3 3914 broad.mit.edu 37 1 209799302 209799302 + Missense_Mutation SNP C C G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:209799302C>G uc001hhg.2 - 13 2057 c.1667G>C c.(1666-1668)CGC>CCC p.R556P LAMB3_uc009xco.2_Missense_Mutation_p.R556P|LAMB3_uc001hhh.2_Missense_Mutation_p.R556P|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 556 Laminin EGF-like 6. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CAAGCCAGGGCGGCAGAGGCA 0.622 NA 6 21 0 0 0.00308 0 0 OBSCN 84033 broad.mit.edu 37 1 228558725 228558725 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:228558725G>A uc009xez.1 + 94 20290 c.20246G>A c.(20245-20247)CGT>CAT p.R6749H OBSCN_uc001hsr.1_Missense_Mutation_p.R1378H NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6749 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CGGTTCCAGCGTTCCCTGATG 0.677 NA 8 59 0 0 0.004482 0 0 C1orf124 83932 broad.mit.edu 37 1 231474216 231474216 + Silent SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:231474216G>T uc001hur.2 + 1 535 c.87G>T c.(85-87)CTG>CTT p.L29L EXOC8_uc001huq.2_5'Flank|C1orf124_uc001hus.2_Silent_p.L29L|C1orf124_uc001hut.2_Silent_p.L29L NM_032018 NP_114407 Q9H040 CA124_HUMAN hypothetical protein LOC83932 isoform a 29 DNA repair nuclear speck DNA binding|metal ion binding 0 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) AGGAGTCCCTGTCGCTAGTGG 0.582 Esophageal Squamous(43;65 937 18756 45127 47168) NA 16 91 2.62699e-14 4.58712e-14 0.003163 1 0 ACTN2 88 broad.mit.edu 37 1 236898975 236898975 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:236898975G>T uc001hyf.2 + 8 942 c.738G>T c.(736-738)ATG>ATT p.M246I ACTN2_uc001hyg.2_Missense_Mutation_p.M1I|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 246 CH 2.|Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAGCCATCATGACGTACGTCT 0.522 NA 5 64 3.59834e-05 4.64104e-05 0.001168 1 0 RGS7 6000 broad.mit.edu 37 1 240969527 240969527 + Silent SNP G G C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:240969527G>C uc001hyv.2 - 15 1512 c.1182C>G c.(1180-1182)CCC>CCG p.P394P RGS7_uc010pyh.1_Silent_p.P368P|RGS7_uc010pyj.1_Silent_p.P310P|RGS7_uc001hyu.2_Silent_p.P394P|RGS7_uc009xgn.1_Silent_p.P341P|RGS7_uc001hyw.2_Silent_p.P394P|RGS7_uc001hyt.2_Silent_p.P226P NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 394 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TAATAGCACTGGGGGCTCCGG 0.478 NA 15 104 0 0 0.003163 0 0 OR2T12 127064 broad.mit.edu 37 1 248458056 248458056 + Missense_Mutation SNP G G C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:248458056G>C uc010pzj.1 - 1 825 c.825C>G c.(823-825)TTC>TTG p.F275L NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 275 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ACATAGTATAGAAGGCTGACA 0.483 NA 23 152 0 0 0.00333 0 0 OR2T11 127077 broad.mit.edu 37 1 248790268 248790268 + Silent SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:248790268G>T uc001ier.1 - 1 162 c.162C>A c.(160-162)ACC>ACA p.T54T NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGTACATGGGGGTGTGGAGGC 0.478 NA 18 27 2.5808e-16 4.64953e-16 0.006122 1 0 CDC123 8872 broad.mit.edu 37 10 12292308 12292308 + Splice_Site SNP A A G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr10:12292308A>G uc001ill.2 + 13 1269 c.985_splice c.e13-2 p.K329_splice CDC123_uc001ilm.2_Splice_Site_p.K341_splice NM_006023 NP_006014 O75794 CD123_HUMAN cell division cycle 123 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1) 1 TTTCTTTGACAGAAGAGAAAT 0.502 NA 10 39 0 0 0.001368 0 0 SLC39A12 221074 broad.mit.edu 37 10 18292257 18292257 + Silent SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr10:18292257G>T uc001ipo.2 + 12 2190 c.1917G>T c.(1915-1917)GGG>GGT p.G639G SLC39A12_uc001ipn.2_Silent_p.G602G|SLC39A12_uc001ipp.2_Silent_p.G638G|SLC39A12_uc010qck.1_Silent_p.G505G|uc001ipq.1_RNA NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 639 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TCACTGCTGGGATGTTCTTAT 0.373 NA 20 103 9.7654e-05 0.000121134 0.007413 1 0 ADK 132 broad.mit.edu 37 10 76158301 76158301 + Nonsense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr10:76158301G>A uc001jwi.2 + 6 591 c.519G>A c.(517-519)TGG>TGA p.W173* ADK_uc010qlb.1_Nonsense_Mutation_p.W173*|ADK_uc001jwj.2_Nonsense_Mutation_p.W156*|ADK_uc010qlc.1_Nonsense_Mutation_p.W138* NM_006721 NP_006712 P55263 ADK_HUMAN adenosine kinase isoform b 173 purine base metabolic process|purine ribonucleoside salvage cytosol adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor ovary(1)|skin(1) 2 Prostate(51;0.0112)|Ovarian(15;0.148) Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811) AGAAAAACTGGATGTTGGTAG 0.328 NA 3 30 0 0 0.009096 0 0 VENTX 27287 broad.mit.edu 37 10 135053795 135053795 + Silent SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr10:135053795G>A uc010quy.1 + 3 773 c.762G>A c.(760-762)ACG>ACA p.T254T NM_014468 NP_055283 O95231 VENTX_HUMAN VENT homeobox 254 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) TGCCACAGACGGGGGATGCAT 0.657 NA 3 30 0 0 0.004672 0 0 LOC338651 338651 broad.mit.edu 37 11 1619623 1619623 + Missense_Mutation SNP C C G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr11:1619623C>G uc009ycx.1 + 2 1474 c.723C>G c.(721-723)CAC>CAG p.H241Q LOC338651_uc001ltt.1_RNA|KRTAP5-2_uc001ltv.2_5'Flank NR_021489 SubName: Full=cDNA FLJ30579 fis, clone BRAWH2006989, weakly similar to DNA-DIRECTED RNA POLYMERASE II LARGEST SUBUNIT; EC=2.7.7.6; 0 ACTGTTTACACTATTTTTCCA 0.448 NA 5 38 0 0 0.000602 0 0 OR52J3 119679 broad.mit.edu 37 11 5068356 5068356 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr11:5068356G>A uc010qyv.1 + 1 601 c.601G>A c.(601-603)GGG>AGG p.G201R NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTATCTATGGGCTTTTTGT 0.448 NA 18 102 0 0 0.007413 0 0 SYT9 143425 broad.mit.edu 37 11 7441739 7441739 + Missense_Mutation SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr11:7441739T>A uc001mfe.2 + 6 1577 c.1340T>A c.(1339-1341)GTA>GAA p.V447E SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 447 Cytoplasmic (Potential).|C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TTTCACAGTGTAGGTCACAAT 0.428 NA 12 79 0 0 0.001855 0 0 NLRP10 338322 broad.mit.edu 37 11 7981383 7981383 + Silent SNP A A G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr11:7981383A>G uc001mfv.1 - 2 1793 c.1776T>C c.(1774-1776)AAT>AAC p.N592N NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 592 ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATTTCTTTTCATTTGAATGTT 0.373 NA 6 41 0 0 0.001984 0 0 ANO3 63982 broad.mit.edu 37 11 26677945 26677945 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr11:26677945C>A uc001mqt.3 + 26 2825 c.2680C>A c.(2680-2682)CCC>ACC p.P894T ANO3_uc010rdr.1_Missense_Mutation_p.P878T|ANO3_uc010rds.1_Missense_Mutation_p.P733T|ANO3_uc010rdt.1_Missense_Mutation_p.P748T NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 894 Extracellular (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CAGAGGCCCGCCCTGGAGTTC 0.413 NA 17 91 8.28177e-16 1.46872e-15 0.007413 1 0 LOC440040 440040 broad.mit.edu 37 11 49597897 49597897 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr11:49597897G>T uc010rhy.1 + 2 488 c.10G>T c.(10-12)GAC>TAC p.D4Y LOC440040_uc009ymb.2_Missense_Mutation_p.D4Y NR_027044 SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5; 0 CATGCTGGGTGACATCATTAT 0.498 NA 10 37 0.000673444 0.000783958 0.008291 1 0 OR5T3 390154 broad.mit.edu 37 11 56020007 56020007 + Missense_Mutation SNP T T C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr11:56020007T>C uc010rjd.1 + 1 332 c.332T>C c.(331-333)ATG>ACG p.M111T NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 111 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) ACTCCAAAAATGTTGGTCAAT 0.358 NA 22 135 0 0 0.002299 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947368 57947368 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr11:57947368C>A uc001nmj.2 + 3 768 c.452C>A c.(451-453)GCT>GAT p.A151D NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) GCTTACGTTGCTGGTCTCATC 0.547 NA 8 55 5.4927e-09 8.59892e-09 0.004482 1 0 LRRC32 2615 broad.mit.edu 37 11 76372160 76372160 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr11:76372160G>T uc001oxq.3 - 3 720 c.477C>A c.(475-477)AAC>AAA p.N159K LRRC32_uc001oxr.3_Missense_Mutation_p.N159K|LRRC32_uc010rsf.1_Missense_Mutation_p.N159K NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 159 Extracellular (Potential).|LRR 5. integral to plasma membrane 0 GAGTCAGACTGTTCTCCGCCA 0.642 NA 8 40 3.09899e-07 4.45234e-07 0.004482 1 0 CCDC89 220388 broad.mit.edu 37 11 85396655 85396655 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr11:85396655C>A uc001pau.1 - 1 666 c.519G>T c.(517-519)GAG>GAT p.E173D NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 173 Potential. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ATACTTTCGCCTCCTCATCCT 0.552 NA 21 105 8.10497e-08 1.21041e-07 0.010504 1 0 FAT3 120114 broad.mit.edu 37 11 92087327 92087327 + Nonsense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr11:92087327C>A uc001pdj.3 + 1 2066 c.2049C>A c.(2047-2049)TGC>TGA p.C683* NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 683 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCTTCAGTTGCAGAGAAACTC 0.413 NA TCGA Ovarian(4;0.039) 12 62 7.93312e-07 1.1048e-06 0.00245 1 0 CDON 50937 broad.mit.edu 37 11 125887047 125887047 + Silent SNP A A G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr11:125887047A>G uc009zbw.2 - 6 992 c.864T>C c.(862-864)TAT>TAC p.Y288Y CDON_uc001qdc.3_Silent_p.Y288Y|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Silent_p.Y288Y NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 288 Extracellular (Potential).|Ig-like C2-type 3. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) CCATGCAGGAATAGTTTCCGG 0.438 NA 4 33 0 0 0.000602 0 0 PRMT8 56341 broad.mit.edu 37 12 3662861 3662861 + Silent SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr12:3662861G>A uc001qmf.2 + 4 829 c.462G>A c.(460-462)AAG>AAA p.K154K PRMT8_uc009zed.2_Silent_p.K145K|PRMT8_uc009zee.1_RNA NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 154 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) AGATCATTAAGGCCAACCACT 0.478 NA 16 81 0 0 0.004007 0 0 PDE3A 5139 broad.mit.edu 37 12 20833070 20833070 + Silent SNP A A T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr12:20833070A>T uc001reh.1 + 16 3313 c.3291A>T c.(3289-3291)GCA>GCT p.A1097A NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 1097 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AACGGTTGGCAGGCATAGAAA 0.448 NA 6 86 0 0 0.001168 0 0 SOX5 6660 broad.mit.edu 37 12 23728634 23728634 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr12:23728634C>A uc001rfw.2 - 10 1405 c.1303G>T c.(1303-1305)GCA>TCA p.A435S SOX5_uc001rfx.2_Missense_Mutation_p.A422S|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Missense_Mutation_p.A49S|SOX5_uc010siv.1_Missense_Mutation_p.A422S|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.A387S NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 435 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 GCTAACGCTGCTGGGACAGAG 0.478 NA 14 232 2.32078e-09 3.70999e-09 0.003163 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr12:25398284C>G uc001rgp.1 - 2 216 c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 24 23 0 0 0.005443 0 0 OR8S1 341568 broad.mit.edu 37 12 48919740 48919741 + Missense_Mutation DNP GG GG TT TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr12:48919740_48919741GG>TT uc010slu.1 + 1 326_327 c.326_327GG>TT c.(325-327)GGG>GTT p.G109V NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTCACTGCAGGGACTGAAGCCT 0.525 NA 12 72 0 0 0.004672 0 0 DGKA 1606 broad.mit.edu 37 12 56334126 56334126 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr12:56334126G>T uc001sij.2 + 11 1091 c.827G>T c.(826-828)GGC>GTC p.G276V DGKA_uc009zoc.1_Missense_Mutation_p.G276V|DGKA_uc001sih.1_Missense_Mutation_p.G164V|DGKA_uc001sii.1_Missense_Mutation_p.G134V|DGKA_uc009zod.1_Missense_Mutation_p.G195V|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Missense_Mutation_p.G276V|DGKA_uc001sil.2_Missense_Mutation_p.G276V|DGKA_uc001sim.2_Missense_Mutation_p.G276V|DGKA_uc001sin.2_Missense_Mutation_p.G276V|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_Missense_Mutation_p.G18V NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 276 Phorbol-ester/DAG-type 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) GTGCGAGGAGGCTGTGAGTCC 0.597 NA OREG0021913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 111 0.000157383 0.000191048 0.00308 1 0 GLIPR1L2 144321 broad.mit.edu 37 12 75804431 75804431 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr12:75804431G>T uc001sxr.1 + 2 460 c.452G>T c.(451-453)TGC>TTC p.C151F GLIPR1L2_uc001sxp.1_Missense_Mutation_p.C151F|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.C44F NM_152436 NP_689649 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 151 integral to membrane ovary(1) 1 AATGGCAGTTGCTCTGGAGAC 0.313 NA 7 40 2.0095e-06 2.73147e-06 0.001984 1 0 ALX1 8092 broad.mit.edu 37 12 85677595 85677595 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr12:85677595G>T uc001tae.3 + 2 476 c.472G>T c.(472-474)GAT>TAT p.D158Y NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 158 Homeobox. brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) TCATTACCCGGATGTGTATGT 0.498 NA 13 103 4.14922e-12 6.97683e-12 0.004007 1 0 SLC5A8 160728 broad.mit.edu 37 12 101573839 101573839 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr12:101573839C>A uc001thz.3 - 10 1591 c.1201G>T c.(1201-1203)GCG>TCG p.A401S NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 401 Helical; (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 GACGCCAGCGCAGCCATTCCA 0.428 GBM(60;420 1056 13605 22380 47675) NA 10 118 0.000151284 0.000186639 0.001855 1 0 RBM19 9904 broad.mit.edu 37 12 114362517 114362517 + Nonsense_Mutation SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr12:114362517T>A uc009zwi.2 - 18 2434 c.2290A>T c.(2290-2292)AAG>TAG p.K764* RBM19_uc001tvn.3_Nonsense_Mutation_p.K764*|RBM19_uc001tvm.2_Nonsense_Mutation_p.K764* NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 764 RRM 5. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) TTGTTCTTCTTCTTGGAGATG 0.448 NA 17 105 0 0 0.006122 0 0 PIWIL1 9271 broad.mit.edu 37 12 130840124 130840124 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr12:130840124G>A uc001uik.2 + 12 1406 c.1316G>A c.(1315-1317)CGA>CAA p.R439Q PIWIL1_uc001uij.1_Missense_Mutation_p.R439Q NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 439 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) AGGGAGCTTCGAGACTGGGGT 0.393 NA 7 196 0 0 0.004482 0 0 ULK1 8408 broad.mit.edu 37 12 132393327 132393327 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr12:132393327G>T uc001uje.2 + 6 723 c.455G>T c.(454-456)CGC>CTC p.R152L NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 152 Protein kinase. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CCCGCCGGCCGCCGCGCCAAC 0.473 NA 5 26 0.00116845 0.00133958 0.001168 1 0 SACS 26278 broad.mit.edu 37 13 23909100 23909100 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr13:23909100G>T uc001uon.2 - 10 9504 c.8915C>A c.(8914-8916)CCA>CAA p.P2972Q SACS_uc001uoo.2_Missense_Mutation_p.P2825Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2972 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) ATATAAATCTGGCTGTAGATC 0.383 NA 7 92 2.7689e-08 4.21839e-08 0.001984 1 0 CCDC70 83446 broad.mit.edu 37 13 52439850 52439850 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr13:52439850G>T uc001vfu.3 + 2 632 c.336G>T c.(334-336)AAG>AAT p.K112N uc010tgr.1_RNA NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 precursor 112 extracellular region|plasma membrane 0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) AAATGGAAAAGTCTTTCAGGG 0.468 NA 15 107 1.5739e-10 2.57032e-10 0.004007 1 0 NALCN 259232 broad.mit.edu 37 13 101735531 101735531 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr13:101735531G>T uc001vox.1 - 32 3791 c.3602C>A c.(3601-3603)GCT>GAT p.A1201D NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1201 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATACATTTTAGCTCTAAAACC 0.388 NA 5 32 0.000602214 0.000704653 0.000602 1 0 MYO16 23026 broad.mit.edu 37 13 109365023 109365023 + Missense_Mutation SNP A A C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr13:109365023A>C uc001vqt.1 + 3 367 c.241A>C c.(241-243)AAG>CAG p.K81Q MYO16_uc010agk.1_Missense_Mutation_p.K103Q NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 81 ANK 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCGGCTCCTGAAGGAGGGGGC 0.557 NA 8 82 0 0 0.004482 0 0 COL4A2 1284 broad.mit.edu 37 13 111147722 111147722 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr13:111147722G>A uc001vqx.2 + 40 3957 c.3668G>A c.(3667-3669)GGC>GAC p.G1223D NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 1223 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGCTTCCCAGGCCCTCCTGGG 0.567 NA 10 96 0 0 0.000978 0 0 AK7 122481 broad.mit.edu 37 14 96916184 96916184 + Nonsense_Mutation SNP A A T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr14:96916184A>T uc001yfn.2 + 9 960 c.916A>T c.(916-918)AGA>TGA p.R306* NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 306 Potential. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GAAAATACCCAGAGAAAATGC 0.313 NA 4 33 0 0 0.000602 0 0 OR4N4 283694 broad.mit.edu 37 15 22382661 22382661 + Silent SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr15:22382661G>T uc001yuc.1 + 7 1170 c.189G>T c.(187-189)CTG>CTT p.L63L LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.L63L NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATTTATTTCTGGGCAACTTGG 0.458 NA 30 270 1.41504e-22 2.63289e-22 0.002852 1 0 MYO9A 4649 broad.mit.edu 37 15 72190149 72190149 + Silent SNP G G C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr15:72190149G>C uc002atl.3 - 25 5168 c.4695C>G c.(4693-4695)ACC>ACG p.T1565T MYO9A_uc010biq.2_Silent_p.T1185T|MYO9A_uc002atn.1_Silent_p.T1546T|MYO9A_uc002atk.2_Silent_p.T289T|MYO9A_uc002atm.1_Silent_p.T289T NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 1565 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 CCTTATTTGAGGTATTTAAGC 0.448 NA 10 31 0 0 0.008291 0 0 WASH3P 374666 broad.mit.edu 37 15 102516350 102516350 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr15:102516350G>A uc002cdi.2 + 11 2096 c.676G>A c.(676-678)GGA>AGA p.G226R WASH3P_uc002cdl.2_Missense_Mutation_p.G226R|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G226R|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 CTCTGGGAAAGGACCTGGGGC 0.622 NA 4 10 0 0 0.000602 0 0 PLK1 5347 broad.mit.edu 37 16 23691457 23691457 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr16:23691457G>T uc002dlz.1 + 2 514 c.461G>T c.(460-462)CGA>CTA p.R154L NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 154 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) CCTGAGGCCCGATACTACCTA 0.557 Colon(12;240 564 27038 33155) NA 7 43 8.12818e-05 0.000101379 0.001984 1 0 IRX3 79191 broad.mit.edu 37 16 54318982 54318982 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr16:54318982C>A uc002eht.1 - 2 1227 c.811G>T c.(811-813)GCT>TCT p.A271S NM_024336 NP_077312 P78415 IRX3_HUMAN iroquois homeobox 3 271 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCGCCCCAGCCAGGGACAGC 0.473 GBM(143;1830 1866 4487 4646 37383) NA 10 21 3.07112e-06 4.05316e-06 0.000978 1 0 NQO1 1728 broad.mit.edu 37 16 69744882 69744882 + Silent SNP T T C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr16:69744882T>C uc002exp.2 - 6 1013 c.822A>G c.(820-822)AAA>AAG p.K274K NQO1_uc010cfm.2_Silent_p.K253K|NQO1_uc002exq.2_Silent_p.K240K|NQO1_uc002exr.2_Silent_p.K236K|NQO1_uc010vll.1_Silent_p.K202K NM_000903 NP_000894 P15559 NQO1_HUMAN NAD(P)H menadione oxidoreductase 1, 274 nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process cytosol coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity 0 Dicumarol(DB00266)|Menadione(DB00170) AGGAATCTCATTTTCTAGCTT 0.408 NA 25 67 0 0 0.008361 0 0 GUCY2D 3000 broad.mit.edu 37 17 7915566 7915566 + Silent SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr17:7915566C>T uc002gjt.2 + 9 1928 c.1854C>T c.(1852-1854)GTC>GTT p.V618V NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 618 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) TGGCTGTGGTCTCAGAGCACT 0.612 NA 12 37 0 0 0.001855 0 0 EFCAB5 374786 broad.mit.edu 37 17 28405333 28405333 + Silent SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr17:28405333C>T uc002het.2 + 15 3030 c.2838C>T c.(2836-2838)CTC>CTT p.L946L EFCAB5_uc010cse.2_Silent_p.L701L|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 946 calcium ion binding ovary(1)|skin(1) 2 TGTCTGAACTCAGGGGCAATG 0.428 NA 8 122 0 0 0.004482 0 0 MPP2 4355 broad.mit.edu 37 17 41955346 41955346 + Silent SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr17:41955346C>T uc010wip.1 - 13 1680 c.1623G>A c.(1621-1623)GCG>GCA p.A541A MPP2_uc002ien.1_Silent_p.A513A|MPP2_uc010wim.1_Silent_p.A485A|MPP2_uc002ieo.1_Silent_p.A496A|MPP2_uc010win.1_Silent_p.A357A|MPP2_uc010wio.1_Silent_p.A485A NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 520 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) GTCTCAGGTCCGCCTCCTGCC 0.632 NA 5 49 0 0 0.000602 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476845 42476845 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr17:42476845C>A uc002igw.1 - 8 2664 c.2600G>T c.(2599-2601)CGG>CTG p.R867L GPATCH8_uc002igv.1_Missense_Mutation_p.R789L|GPATCH8_uc010wiz.1_Missense_Mutation_p.R789L NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 867 Ser-rich. intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GTAAGAACGCCGGGAGGAACG 0.537 NA 8 97 0.000157383 0.000191048 0.00308 1 0 KIF2B 84643 broad.mit.edu 37 17 51900628 51900628 + Silent SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr17:51900628G>A uc002iua.2 + 1 390 c.234G>A c.(232-234)CTG>CTA p.L78L NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 78 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CCATACTCCTGCTGAATCCAG 0.567 NA 13 134 0 0 0.00245 0 0 SCPEP1 59342 broad.mit.edu 37 17 55072972 55072972 + Silent SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr17:55072972G>T uc002iuv.3 + 8 815 c.762G>T c.(760-762)GGG>GGT p.G254G SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Silent_p.G204G NM_021626 NP_067639 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 precursor 254 proteolysis extracellular region serine-type carboxypeptidase activity skin(1) 1 Breast(9;2.86e-08) AGCTGTGGGGGAAAGCAGAAA 0.493 NA 12 51 1.08611e-07 1.58043e-07 0.000978 1 0 RGS9 8787 broad.mit.edu 37 17 63221442 63221442 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr17:63221442G>T uc002jfe.2 + 18 1840 c.1730G>T c.(1729-1731)CGC>CTC p.R577L RGS9_uc010dem.2_Missense_Mutation_p.R574L|RGS9_uc002jfd.2_Missense_Mutation_p.R574L|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R348L NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 577 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 CCTAAGGCCCGCATGGCTCTG 0.682 NA 5 115 0.000602214 0.000704653 0.000602 1 0 SEC14L1 6397 broad.mit.edu 37 17 75192327 75192328 + Missense_Mutation DNP GA GA TT TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr17:75192327_75192328GA>TT uc002jto.2 + 8 1020_1021 c.753_754GA>TT c.(751-756)TTGACT>TTTTCT p.251_252LT>FS SEC14L1_uc010dhc.2_Missense_Mutation_p.251_252LT>FS|SEC14L1_uc010wth.1_Missense_Mutation_p.251_252LT>FS|SEC14L1_uc002jtm.2_Missense_Mutation_p.251_252LT>FS|SEC14L1_uc010wti.1_Missense_Mutation_p.217_218LT>FS NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 251_252 transport Golgi apparatus|integral to membrane binding ovary(2) 2 TGGGCGATTTGACTCCGCTGCA 0.51 NA 4 55 0 0 0.004672 0 0 MYOM1 8736 broad.mit.edu 37 18 3134707 3134707 + Silent SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr18:3134707C>A uc002klp.2 - 16 2659 c.2325G>T c.(2323-2325)GCG>GCT p.A775A MYOM1_uc002klq.2_Silent_p.A775A NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 775 Fibronectin type-III 3. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 CAGCAACGCTCGCCTCTATGT 0.567 NA 6 45 5.9392e-07 8.3739e-07 0.001168 1 0 EPB41L3 23136 broad.mit.edu 37 18 5434002 5434002 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr18:5434002G>A uc002kmt.1 - 7 810 c.724C>T c.(724-726)CCA>TCA p.P242S EPB41L3_uc010wzh.1_Missense_Mutation_p.P242S|EPB41L3_uc002kmu.1_Missense_Mutation_p.P242S|EPB41L3_uc010dkq.1_Missense_Mutation_p.P133S|EPB41L3_uc010dks.1_Missense_Mutation_p.P264S|EPB41L3_uc002kmv.1_Missense_Mutation_p.P133S NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 242 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CATTCATCTGGGTCATAGTCT 0.527 NA 9 168 0 0 0.004482 0 0 RBBP8 5932 broad.mit.edu 37 18 20572760 20572760 + Nonsense_Mutation SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr18:20572760C>T uc002ktw.2 + 11 1301 c.970C>T c.(970-972)CGA>TGA p.R324* RBBP8_uc002kty.2_Nonsense_Mutation_p.R324*|RBBP8_uc002ktz.2_Nonsense_Mutation_p.R324*|RBBP8_uc002kua.2_Nonsense_Mutation_p.R324*|RBBP8_uc002ktx.1_Nonsense_Mutation_p.R324* NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 324 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) ATTACCTACTCGAGTGTCATC 0.338 NA Direct_reversal_of_damage|Homologous_recombination 13 85 0 0 0.001855 0 0 LMAN1 3998 broad.mit.edu 37 18 57026271 57026271 + Missense_Mutation SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr18:57026271T>A uc002lhz.2 - 1 238 c.206A>T c.(205-207)CAC>CTC p.H69L LMAN1_uc010xek.1_Missense_Mutation_p.H69L NM_005570 NP_005561 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 precursor 69 Lumenal (Potential).|L-type lectin-like. blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding skin(1) 1 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) ACTCCCCGCGTGGGCCCAGAA 0.667 NA 6 53 0 0 0.001984 0 0 SEMA6B 10501 broad.mit.edu 37 19 4550282 4550282 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:4550282G>T uc010duc.1 - 11 1162 c.1124C>A c.(1123-1125)CCC>CAC p.P375H SEMA6B_uc010dud.2_Missense_Mutation_p.P375H|SEMA6B_uc010xih.1_Missense_Mutation_p.P375H NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 375 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGCACCCGGGCCTGGGGGT 0.597 NA 6 42 8.12818e-05 0.000101379 0.001984 1 0 TUBB4 10382 broad.mit.edu 37 19 6495936 6495936 + Silent SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:6495936G>A uc002mfg.1 - 4 681 c.574C>T c.(574-576)CTG>TTG p.L192L TUBB4_uc002mff.1_Silent_p.L120L|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 192 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) TTCTCCACCAGCTGGTGCACA 0.592 NA 33 128 0 0 0.003755 0 0 EMR1 2015 broad.mit.edu 37 19 6928172 6928172 + Nonsense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:6928172G>T uc002mfw.2 + 17 2277 c.2239G>T c.(2239-2241)GAG>TAG p.E747* EMR1_uc010dvc.2_Nonsense_Mutation_p.E682*|EMR1_uc010dvb.2_Nonsense_Mutation_p.E695*|EMR1_uc010xji.1_Nonsense_Mutation_p.E606*|EMR1_uc010xjj.1_Nonsense_Mutation_p.E570* NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 747 Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) GCTGAATACAGAGACAGGGTT 0.498 NA 28 124 3.73988e-18 6.8464e-18 0.00632 1 0 ZNF433 163059 broad.mit.edu 37 19 12127282 12127282 + Missense_Mutation SNP A A G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:12127282A>G uc002msy.1 - 4 571 c.400T>C c.(400-402)TAT>CAT p.Y134H uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.Y99H NM_001080411 NP_001073880 Q8N7K0 ZN433_HUMAN zinc finger protein 433 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TATTCTTGATACTCATATGCC 0.393 NA 5 68 0 0 0.000602 0 0 PRKACA 5566 broad.mit.edu 37 19 14208272 14208272 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:14208272C>A uc002myc.2 - 8 866 c.666G>T c.(664-666)TGG>TGT p.W222C PRKACA_uc002myb.2_Missense_Mutation_p.W214C|PRKACA_uc010xnm.1_Missense_Mutation_p.W164C|PRKACA_uc002myd.2_3'UTR NM_002730 NP_002721 P17612 KAPCA_HUMAN cAMP-dependent protein kinase catalytic subunit 222 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding lung(1) 1 CCAGGGCCCACCAGTCCACGG 0.622 NA 12 36 3.07112e-06 4.05316e-06 0.000978 1 0 SFRS14 10147 broad.mit.edu 37 19 19115386 19115386 + Silent SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:19115386T>A uc002nkx.2 - 7 2666 c.2520A>T c.(2518-2520)TCA>TCT p.S840S SFRS14_uc002nkz.1_Silent_p.S854S|SFRS14_uc002nla.1_Silent_p.S840S|SFRS14_uc002nlb.2_Silent_p.S840S|SFRS14_uc010xqk.1_Silent_p.S609S NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 840 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) TGAAACAAATTGATGGACATA 0.473 NA 7 99 0 0 0.00308 0 0 ZNF43 7594 broad.mit.edu 37 19 21991183 21991183 + Silent SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:21991183G>T uc002nqj.2 - 4 1786 c.1656C>A c.(1654-1656)ATC>ATA p.I552I ZNF43_uc010ecv.2_Silent_p.I546I|ZNF43_uc002nql.2_Silent_p.I546I|ZNF43_uc002nqm.2_Silent_p.I546I|ZNF43_uc002nqk.2_Silent_p.I482I NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 552 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GTTTGGTAAGGATTGAGAAAT 0.378 NA 11 43 2.80697e-09 4.45583e-09 0.000978 1 0 ZNF208 7757 broad.mit.edu 37 19 22155240 22155240 + Missense_Mutation SNP A A G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:22155240A>G uc002nqp.2 - 5 2445 c.2296T>C c.(2296-2298)TGT>CGT p.C766R ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GCTTTGCCACATTCTTCACAT 0.363 NA 7 57 0 0 0.001984 0 0 RYR1 6261 broad.mit.edu 37 19 39001314 39001314 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:39001314G>T uc002oit.2 + 60 9145 c.9015G>T c.(9013-9015)TTG>TTT p.L3005F RYR1_uc002oiu.2_Missense_Mutation_p.L3005F|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3005 Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGCTCCCTTTGATCAACCAGT 0.562 NA 54 186 2.83923e-41 5.37087e-41 0.00361 1 0 PSG6 5675 broad.mit.edu 37 19 43411932 43411932 + Missense_Mutation SNP A A T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:43411932A>T uc002ovj.1 - 4 833 c.781T>A c.(781-783)TGT>AGT p.C261S PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.C268S|PSG6_uc002ovi.2_Missense_Mutation_p.C262S|PSG6_uc010xwk.1_Missense_Mutation_p.C101S|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_Missense_Mutation_p.C51S|PSG6_uc002ovf.1_Intron|PSG6_uc002ovg.1_Missense_Mutation_p.C261S NM_002782 NP_002773 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 isoform 261 Ig-like C2-type 2. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) TTAGGTTCACAGGTGAAGGCT 0.488 NA 16 285 0 0 0.004007 0 0 ZNF600 162966 broad.mit.edu 37 19 53268994 53268994 + Missense_Mutation SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:53268994T>A uc002qab.3 - 3 2301 c.2015A>T c.(2014-2016)GAC>GTC p.D672V NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 672 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) AAAAGTCTTGTCACAAACCTT 0.388 Esophageal Squamous(196;1235 2112 2375 33339 34207) NA 17 74 0 0 0.004007 0 0 NLRP12 91662 broad.mit.edu 37 19 54313519 54313519 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:54313519G>T uc002qch.3 - 3 1614 c.1394C>A c.(1393-1395)GCG>GAG p.A465E NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A465E|NLRP12_uc002qcj.3_Missense_Mutation_p.A465E|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A465E NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 465 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CCCATCTGCCGCCAAGGAGCA 0.597 NA 10 76 3.86212e-05 4.92529e-05 0.008291 1 0 CACNG6 59285 broad.mit.edu 37 19 54515349 54515349 + Missense_Mutation SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:54515349T>A uc002qct.2 + 4 1279 c.689T>A c.(688-690)ATC>AAC p.I230N CACNG6_uc002qcu.2_Missense_Mutation_p.I184N|CACNG6_uc002qcv.2_Missense_Mutation_p.I159N NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN voltage-dependent calcium channel gamma-6 230 Helical; (Potential). voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(2) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) GCCGGCCTGATCCTGCTGTTG 0.716 NA 14 70 0 0 0.00245 0 0 SOS1 6654 broad.mit.edu 37 2 39240608 39240608 + Silent SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:39240608T>A uc002rrk.3 - 13 2201 c.2160A>T c.(2158-2160)ACA>ACT p.T720T SOS1_uc002rrj.3_Silent_p.T334T NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 720 N-terminal Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) TACCTCTTACTGTTCCAATAA 0.343 NA Noonan_syndrome 9 78 0 0 0.006214 0 0 SLC3A1 6519 broad.mit.edu 37 2 44547565 44547565 + Silent SNP C C G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:44547565C>G uc002ruc.3 + 10 1923 c.1845C>G c.(1843-1845)CCC>CCG p.P615P PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Silent_p.P337P|SLC3A1_uc002rue.3_Silent_p.P235P NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 615 Extracellular (Potential). P -> T (in CSNU1). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) CGGGCCTTCCCGCTAAAATGA 0.408 NA 8 75 0 0 0.00308 0 0 FSHR 2492 broad.mit.edu 37 2 49190356 49190356 + Missense_Mutation SNP A A T rs145815060 TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:49190356A>T uc002rww.2 - 10 1678 c.1604T>A c.(1603-1605)CTT>CAT p.L535H FSHR_uc002rwx.2_Missense_Mutation_p.L473H|FSHR_uc010fbn.2_Missense_Mutation_p.L509H NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 535 Helical; Name=5; (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ATTGAGCACAAGGAGGGACAT 0.517 NA Gonadal_Dysgenesis_46_XX 3 29 0 0 0.004672 0 0 RGPD4 285190 broad.mit.edu 37 2 108475895 108475895 + Missense_Mutation SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:108475895C>T uc010ywk.1 + 11 1601 c.1519C>T c.(1519-1521)CAC>TAC p.H507Y RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 507 intracellular transport binding skin(2) 2 ATGTAATTCTCACCACAGCTC 0.368 NA 14 164 0 0 0.003163 0 0 CCDC74A 90557 broad.mit.edu 37 2 132288319 132288319 + Missense_Mutation SNP G G C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:132288319G>C uc002tta.2 + 3 515 c.463G>C c.(463-465)GGT>CGT p.G155R CCDC74A_uc002ttb.2_Intron NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 155 skin(1) 1 TCTTGCGGGCGGTAGCGCCGA 0.637 NA 5 70 0 0 0.000602 0 0 SPOPL 339745 broad.mit.edu 37 2 139308546 139308546 + Missense_Mutation SNP A A C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:139308546A>C uc002tvh.2 + 4 674 c.274A>C c.(274-276)AGC>CGC p.S92R NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 92 MATH. nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) GCTTTTAGTCAGCTGCCCCAA 0.368 NA 6 96 0 0 0.00308 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172549360 172549360 + Missense_Mutation SNP A A T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:172549360A>T uc002uha.1 + 3 347 c.182A>T c.(181-183)GAA>GTA p.E61V DYNC1I2_uc002uhc.2_Missense_Mutation_p.E61V|DYNC1I2_uc002uhb.1_Missense_Mutation_p.E61V|DYNC1I2_uc010zds.1_Missense_Mutation_p.E61V|DYNC1I2_uc002uhd.1_Missense_Mutation_p.E61V|DYNC1I2_uc002uhe.1_Missense_Mutation_p.E61V|DYNC1I2_uc002uhf.1_Missense_Mutation_p.E61V|DYNC1I2_uc010zdt.1_Missense_Mutation_p.E61V NM_001378 NP_001369 Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 61 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.198) AGAGAAGCTGAAGCATTGCTT 0.383 NA 5 11 0 0 0.000602 0 0 CHRNA1 1134 broad.mit.edu 37 2 175614801 175614801 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:175614801G>T uc002ujd.2 - 8 1028 c.950C>A c.(949-951)CCC>CAC p.P317H uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.P292H NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 317 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 TCCAATCAAGGGCACAGCACT 0.512 NA 10 50 3.07112e-06 4.05316e-06 0.000978 1 0 TTN 7273 broad.mit.edu 37 2 179595833 179595833 + Silent SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:179595833T>A uc010zfg.1 - 57 14051 c.13827A>T c.(13825-13827)ACA>ACT p.T4609T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T1270T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5536 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) ACCATTTGGCTGTAATCTCCT 0.418 NA 8 108 0 0 0.004482 0 0 SATB2 23314 broad.mit.edu 37 2 200213728 200213728 + Missense_Mutation SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:200213728T>A uc002uuy.1 - 7 1686 c.869A>T c.(868-870)CAG>CTG p.Q290L SATB2_uc010fsq.1_Missense_Mutation_p.Q172L|SATB2_uc002uuz.1_Missense_Mutation_p.Q290L|SATB2_uc002uva.1_Missense_Mutation_p.Q290L|SATB2_uc002uvb.1_Missense_Mutation_p.Q33L NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 290 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 CATGATGGGCTGTAATGCGGG 0.493 Colon(30;262 767 11040 24421 36230) NA 8 78 0 0 0.00308 0 0 PARD3B 117583 broad.mit.edu 37 2 206165275 206165275 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:206165275G>T uc002var.1 + 17 2414 c.2207G>T c.(2206-2208)GGT>GTT p.G736V PARD3B_uc010fub.1_Missense_Mutation_p.G736V|PARD3B_uc002vao.1_Missense_Mutation_p.G736V|PARD3B_uc002vap.1_Missense_Mutation_p.G674V|PARD3B_uc002vaq.1_Intron NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 736 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AAAGATTTTGGTCCAACTCTG 0.488 NA 24 96 6.21321e-17 1.12832e-16 0.00278 1 0 CHPF 79586 broad.mit.edu 37 2 220404988 220404988 + Missense_Mutation SNP G G C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:220404988G>C uc002vmc.3 - 4 1672 c.1445C>G c.(1444-1446)ACT>AGT p.T482S CHPF_uc010zlh.1_Missense_Mutation_p.T320S NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 482 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CACTCGGCGAGTGAGGGGCCG 0.652 NA 5 22 0 0 0.000602 0 0 ALPPL2 251 broad.mit.edu 37 2 233272329 233272329 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:233272329C>A uc002vss.3 + 4 379 c.326C>A c.(325-327)CCA>CAA p.P109Q NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 109 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) AAGCATGTGCCAGACAGTGGA 0.567 NA 3 29 2.56e-06 3.45905e-06 0.009096 1 0 AQP12B 653437 broad.mit.edu 37 2 241622051 241622051 + Silent SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:241622051C>A uc010fzj.2 - 1 267 c.204G>T c.(202-204)GGG>GGT p.G68G AQP12B_uc002vzt.2_Intron NM_001102467 NP_001095937 A6NM10 AQ12B_HUMAN aquaporin 12B 56 Helical; Name=2; (Potential). integral to membrane transporter activity 0 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) GCAGGTCAGGCCCAAAGTCCC 0.697 NA 7 41 0.000157383 0.000191048 0.00308 1 0 CDH22 64405 broad.mit.edu 37 20 44806629 44806629 + Missense_Mutation SNP G G C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr20:44806629G>C uc002xrm.2 - 10 2272 c.1871C>G c.(1870-1872)CCC>CGC p.P624R CDH22_uc010ghk.1_Missense_Mutation_p.P624R NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 624 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GAGGGCGCCGGGGCTGAGGGA 0.652 NA 4 33 0 0 0.001168 0 0 PCK1 5105 broad.mit.edu 37 20 56139639 56139639 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr20:56139639G>A uc002xyn.3 + 8 1451 c.1288G>A c.(1288-1290)GGC>AGC p.G430S PCK1_uc010zzm.1_Missense_Mutation_p.G113S NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 430 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TCCCATTGAAGGCATTATCTT 0.567 NA 25 96 0 0 0.00278 0 0 MYO18B 84700 broad.mit.edu 37 22 26193997 26193997 + Silent SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr22:26193997C>T uc003abz.1 + 12 2704 c.2454C>T c.(2452-2454)AGC>AGT p.S818S MYO18B_uc003aca.1_Silent_p.S699S|MYO18B_uc010guy.1_Silent_p.S699S|MYO18B_uc010guz.1_Silent_p.S699S|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Silent_p.S331S NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 818 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TCTCAGAGAGCGAGCAGCGGG 0.647 NA 10 46 0 0 0.008291 0 0 FGD5 152273 broad.mit.edu 37 3 14861995 14861996 + Missense_Mutation DNP GC GC AG TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr3:14861995_14861996GC>AG uc003bzc.2 + 1 1527_1528 c.1417_1418GC>AG c.(1417-1419)GCG>AGG p.A473R FGD5_uc011avk.1_Missense_Mutation_p.A473R NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 473 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 CCTGGTTCCCGCGGACAGGAAG 0.644 NA 4 39 0 0 0.004672 0 0 TBC1D23 55773 broad.mit.edu 37 3 100016840 100016840 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr3:100016840G>T uc003dtt.2 + 9 1127 c.950G>T c.(949-951)TGT>TTT p.C317F TBC1D23_uc003dts.2_Missense_Mutation_p.C317F NM_018309 NP_060779 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 317 intracellular Rab GTPase activator activity ovary(1)|liver(1) 2 CAGGCTCTTTGTCTGGCCATC 0.403 NA 5 24 0.000602214 0.000704653 0.000602 1 0 SI 6476 broad.mit.edu 37 3 164735759 164735759 + Missense_Mutation SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr3:164735759C>T uc003fei.2 - 29 3581 c.3519G>A c.(3517-3519)ATG>ATA p.M1173I NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1173 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTGTTTTACCCATTGCATTGC 0.343 NA HNSCC(35;0.089) 4 52 0 0 0.009096 0 0 ZBBX 79740 broad.mit.edu 37 3 167051692 167051692 + Nonsense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr3:167051692C>A uc003fep.2 - 10 933 c.610G>T c.(610-612)GAG>TAG p.E204* ZBBX_uc011bpc.1_Nonsense_Mutation_p.E204*|ZBBX_uc003feq.2_Nonsense_Mutation_p.E175* NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 204 intracellular zinc ion binding ovary(2) 2 GAATTATTCTCCTCTTTGGGT 0.333 NA 12 40 0.00136819 0.0015607 0.001368 1 0 CRIPAK 285464 broad.mit.edu 37 4 1389481 1389481 + Silent SNP C C T rs149222149 byFrequency TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr4:1389481C>T uc003gdf.2 + 1 4142 c.1182C>T c.(1180-1182)CCC>CCT p.P394P NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 394 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GTGGAGTGCCCGCCTGCTCAC 0.612 NA 16 188 0 0 0.006122 0 0 GPR78 27201 broad.mit.edu 37 4 8588864 8588864 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr4:8588864C>A uc003glk.2 + 3 1285 c.866C>A c.(865-867)GCC>GAC p.A289D CPZ_uc003gll.2_Intron NM_080819 NP_543009 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 289 Helical; Name=7; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|ovary(2) 6 AAGGCGGTGGCCGACCCGTTC 0.677 NA 13 29 2.27111e-07 3.28371e-07 0.001368 1 0 SLC2A9 56606 broad.mit.edu 37 4 9836623 9836623 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr4:9836623G>T uc003gmc.2 - 11 1362 c.1301C>A c.(1300-1302)CCG>CAG p.P434Q SLC2A9_uc003gmd.2_Missense_Mutation_p.P405Q NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 434 Helical; Name=10; (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 CAAGATGAACGGGATGCCACC 0.542 NA 6 54 6.5536e-12 1.09387e-11 0.00308 1 0 AASDH 132949 broad.mit.edu 37 4 57220214 57220214 + Silent SNP A A G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr4:57220214A>G uc003hbn.2 - 8 1527 c.1374T>C c.(1372-1374)CTT>CTC p.L458L AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.L305L|AASDH_uc003hbo.2_Silent_p.L358L|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Silent_p.L458L|AASDH_uc003hbp.2_Silent_p.L458L NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 458 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CCTGTTGCACAAGTTCAATGT 0.358 NA 5 41 0 0 0.001168 0 0 KIAA1109 84162 broad.mit.edu 37 4 123277052 123277052 + Missense_Mutation SNP A A T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr4:123277052A>T uc003ieh.2 + 81 14452 c.14407A>T c.(14407-14409)AAC>TAC p.N4803Y KIAA1109_uc003iem.2_Missense_Mutation_p.N1159Y NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4803 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TTCTAGCTACAACCATGAAAC 0.398 NA 7 53 0 0 0.001984 0 0 NAF1 92345 broad.mit.edu 37 4 164085389 164085389 + Missense_Mutation SNP T T C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr4:164085389T>C uc003iqj.2 - 2 714 c.520A>G c.(520-522)AAA>GAA p.K174E NAF1_uc010iqw.1_Missense_Mutation_p.K174E|NAF1_uc003iqk.2_RNA NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 174 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) AATTCATCTTTTGTTTTAAGA 0.274 NA 2 11 0 0 0.004672 0 0 VEGFC 7424 broad.mit.edu 37 4 177609073 177609073 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr4:177609073G>T uc003ius.1 - 5 1143 c.713C>A c.(712-714)GCA>GAA p.A238E NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 238 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) CTTGTTCGCTGCCTGACACCT 0.448 NA 10 35 7.48243e-07 1.04846e-06 0.006214 1 0 CASP3 836 broad.mit.edu 37 4 185550429 185550429 + Missense_Mutation SNP G G C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr4:185550429G>C uc003iwh.2 - 8 1094 c.831C>G c.(829-831)CAC>CAG p.H277Q CASP3_uc003iwg.2_3'UTR|CASP3_uc003iwi.2_Missense_Mutation_p.H277Q NM_004346 NP_004337 P42574 CASP3_HUMAN caspase 3 preproprotein 277 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding kidney(1) 1 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) CATTTCTTTAGTGATAAAAAT 0.348 NA 8 134 0 0 0.004482 0 0 SEMA5A 9037 broad.mit.edu 37 5 9066557 9066557 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:9066557C>A uc003jek.2 - 17 2987 c.2275G>T c.(2275-2277)GGC>TGC p.G759C NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 759 TSP type-1 4.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CCACTGGTGCCGTCGCTAGAA 0.517 NA 12 146 0.000978159 0.00113287 0.000978 1 0 RXFP3 51289 broad.mit.edu 37 5 33937383 33937383 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:33937383C>A uc003jic.1 + 1 895 c.538C>A c.(538-540)CGC>AGC p.R180S NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 180 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GAGTGTGACGCGCTACCATTC 0.627 NA 6 64 2.0095e-06 2.73147e-06 0.001984 1 0 SPEF2 79925 broad.mit.edu 37 5 35649461 35649461 + Splice_Site SNP A A G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:35649461A>G uc003jjo.2 + 6 838 c.727_splice c.e6-2 p.D243_splice SPEF2_uc003jjn.1_Splice_Site_p.D243_splice|SPEF2_uc003jjq.3_Splice_Site_p.D243_splice NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 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) TTTTCTTTAAAGGATGTGGCT 0.303 NA 8 81 0 0 0.00308 0 0 GCNT4 51301 broad.mit.edu 37 5 74325583 74325583 + Missense_Mutation SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:74325583C>T uc003kdn.2 - 1 1142 c.280G>A c.(280-282)GAC>AAC p.D94N NM_016591 NP_057675 Q9P109 GCNT4_HUMAN core 2 beta-1,6-N-acetylglucosaminyltransferase 94 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) TCAATGATGTCCCTTCTTCTT 0.403 NA 13 151 0 0 0.001368 0 0 TTC37 9652 broad.mit.edu 37 5 94834075 94834075 + Missense_Mutation SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:94834075T>A uc003klb.2 - 33 3832 c.3562A>T c.(3562-3564)AGC>TGC p.S1188C NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1188 binding ovary(3)|pancreas(1) 4 AGAATTTACCTGTGAACAGCT 0.353 NA 16 104 0 0 0.00499 0 0 FBN2 2201 broad.mit.edu 37 5 127664387 127664387 + Splice_Site SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:127664387C>T uc003kuu.2 - 34 4910 c.4471_splice c.e34+1 p.D1491_splice FBN2_uc003kuv.2_Missense_Mutation_p.G1458D NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGGTGACCCACCTTGGCAGGA 0.507 NA 3 26 0 0 0.004672 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130766994 130766994 + Silent SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:130766994C>A uc003kvn.1 - 26 4229 c.4023G>T c.(4021-4023)TCG>TCT p.S1341S RAPGEF6_uc003kvp.1_Silent_p.S1391S|RAPGEF6_uc003kvo.1_Silent_p.S1354S|RAPGEF6_uc010jdi.1_Silent_p.S1349S|RAPGEF6_uc010jdj.1_Silent_p.S1349S|RAPGEF6_uc003kvm.1_Silent_p.S264S NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 1341 Ser-rich. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TGCTCACAGACGATGAGACAG 0.423 Melanoma(168;435 1955 13113 13877 23213) NA 8 77 5.4927e-09 8.59892e-09 0.004482 1 0 PCDHB2 56133 broad.mit.edu 37 5 140475031 140475031 + Silent SNP C C G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:140475031C>G uc003lil.2 + 1 795 c.657C>G c.(655-657)GGC>GGG p.G219G PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 219 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTAGATGGCGGGAGTCCAC 0.552 NA 6 39 0 0 0.001168 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482386 140482386 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:140482386G>T uc003lio.2 + 1 2153 c.2153G>T c.(2152-2154)AGG>ATG p.R718M uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 718 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGAGGAGCAGGGCGGCCTCG 0.662 NA 16 159 1.00905e-13 1.7485e-13 0.008871 1 0 PCDHB4 56131 broad.mit.edu 37 5 140502251 140502251 + Missense_Mutation SNP C C G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:140502251C>G uc003lip.1 + 1 671 c.671C>G c.(670-672)ACG>AGG p.T224R NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 224 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGTCTGGCACGGTCATGGTT 0.547 NA 10 89 0 0 0.008291 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502701 140502701 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:140502701C>A uc003lip.1 + 1 1121 c.1121C>A c.(1120-1122)TCC>TAC p.S374Y NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 374 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATAGAGATTCCGGAGAAAAT 0.408 NA 17 121 1.5739e-10 2.57032e-10 0.004007 1 0 PCDHB8 56128 broad.mit.edu 37 5 140558333 140558333 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:140558333G>T uc011dai.1 + 1 904 c.718G>T c.(718-720)GCC>TCC p.A240S PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 240 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATGATAATGCCCCTGAATT 0.507 NA 26 391 1.17739e-12 2.00954e-12 0.005443 1 0 PCDHB9 56127 broad.mit.edu 37 5 140568214 140568214 + Silent SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:140568214C>A uc003liw.1 + 3 1323 c.1323C>A c.(1321-1323)GTC>GTA p.V441V NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 441 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGTCTCCGACGTCA 0.587 NA 37 157 3.78316e-11 6.26844e-11 0.00623 1 0 PCDHB11 56125 broad.mit.edu 37 5 140581442 140581442 + Missense_Mutation SNP T T C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:140581442T>C uc003liy.2 + 1 2095 c.2095T>C c.(2095-2097)TCG>CCG p.S699P PCDHB11_uc011daj.1_Missense_Mutation_p.S334P NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 699 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCGGTGTCTTCGCTCTTCCT 0.687 NA 15 178 0 0 0.004007 0 0 PCDHB18 54660 broad.mit.edu 37 5 140615613 140615613 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:140615613C>A uc003ljc.1 + 1 1676 c.1328C>A c.(1327-1329)CCG>CAG p.P443Q NR_001281 SubName: Full=Similar to protocadherin-3 (Pcdh3); ovary(1) 1 CCCCAGGACCCGCACCTGCCC 0.642 NA 18 236 9.16793e-09 1.41573e-08 0.00499 1 0 PCDHGB6 56100 broad.mit.edu 37 5 140787938 140787938 + Missense_Mutation SNP A A T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:140787938A>T uc003lkj.1 + 1 169 c.169A>T c.(169-171)AGT>TGT p.S57C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.S57C NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 57 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTAGGGCTCAGTGTCCTGGA 0.597 NA 8 54 0 0 0.006214 0 0 SPINK5 11005 broad.mit.edu 37 5 147499581 147499581 + Missense_Mutation SNP G G C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:147499581G>C uc003lox.2 + 25 2396 c.2323G>C c.(2323-2325)GAT>CAT p.D775H SPINK5_uc010jgr.2_Missense_Mutation_p.D756H|SPINK5_uc003low.2_Missense_Mutation_p.D775H|SPINK5_uc003loy.2_Missense_Mutation_p.D775H NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 775 Kazal-like 12. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATACATGTGATGAGTTTAG 0.393 NA 8 24 0 0 0.00308 0 0 ODZ2 57451 broad.mit.edu 37 5 167643912 167643912 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:167643912C>A uc010jjd.2 + 22 4191 c.4191C>A c.(4189-4191)AGC>AGA p.S1397R ODZ2_uc003lzr.3_Missense_Mutation_p.S1167R|ODZ2_uc003lzt.3_Missense_Mutation_p.S770R|ODZ2_uc010jje.2_Missense_Mutation_p.S661R NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GTGATTCCAGCATGGATGTAG 0.527 NA 14 80 3.27435e-08 4.95519e-08 0.00245 1 0 FAF2 23197 broad.mit.edu 37 5 175927110 175927110 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:175927110G>T uc003mej.3 + 10 1171 c.1118G>T c.(1117-1119)CGA>CTA p.R373L NM_014613 NP_055428 Q96CS3 FAF2_HUMAN UBX domain containing 8 373 UBX. response to unfolded protein endoplasmic reticulum|lipid particle protein binding ovary(1) 1 AATGATTCTCGAGTAGAGAGA 0.438 NA 8 103 0.000442599 0.000526021 0.006214 1 0 DSP 1832 broad.mit.edu 37 6 7584233 7584233 + Silent SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr6:7584233T>A uc003mxp.1 + 24 7017 c.6738T>A c.(6736-6738)GTT>GTA p.V2246V DSP_uc003mxq.1_Silent_p.V1647V NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2246 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ATGACGAGGTTGGTGAGAGAA 0.443 NA 14 33 0 0 0.001855 0 0 PIP5K1P1 206426 broad.mit.edu 37 6 7986871 7986871 + Silent SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr6:7986871C>T uc003mxx.3 + 1 537 c.102C>T c.(100-102)AGC>AGT p.S34S TXNDC5_uc003mxw.2_Intron NR_027712 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 GAATCTTGAGCCCCACGGCAT 0.557 NA 7 18 0 0 0.001984 0 0 ZNF451 26036 broad.mit.edu 37 6 57013339 57013339 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr6:57013339G>T uc003pdm.1 + 10 2680 c.2456G>T c.(2455-2457)AGT>ATT p.S819I ZNF451_uc003pdl.2_Missense_Mutation_p.S819I|ZNF451_uc003pdn.1_Missense_Mutation_p.S819I|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.S819I NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 819 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CAGAAACCCAGTGTGGCTCAT 0.398 NA 8 46 0.000274275 0.000327687 0.004482 1 0 COL19A1 1310 broad.mit.edu 37 6 70812089 70812089 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr6:70812089G>T uc003pfc.1 + 16 1370 c.1253G>T c.(1252-1254)GGA>GTA p.G418V COL19A1_uc010kam.1_Missense_Mutation_p.G314V NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 418 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GGACCTCCCGGAAAACCAGGA 0.373 NA 7 89 5.18039e-06 6.79739e-06 0.00308 1 0 GRIK2 2898 broad.mit.edu 37 6 102307276 102307276 + Missense_Mutation SNP T T C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr6:102307276T>C uc003pqp.3 + 10 1681 c.1432T>C c.(1432-1434)TAT>CAT p.Y478H GRIK2_uc003pqn.2_Missense_Mutation_p.Y478H|GRIK2_uc003pqo.3_Missense_Mutation_p.Y478H|GRIK2_uc010kcw.2_Missense_Mutation_p.Y478H NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 478 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TGGCTTTACATATGAAATTAG 0.393 NA 9 56 0 0 0.006214 0 0 RFX6 222546 broad.mit.edu 37 6 117237203 117237203 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr6:117237203C>A uc003pxm.2 + 8 876 c.813C>A c.(811-813)CAC>CAA p.H271Q NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 271 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 ACAAAACTCACTGCCAGTGTA 0.323 NA 12 57 4.3838e-07 6.21952e-07 0.001855 1 0 ROS1 6098 broad.mit.edu 37 6 117665282 117665282 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr6:117665282C>A uc003pxp.1 - 27 4664 c.4465G>T c.(4465-4467)GTT>TTT p.V1489F ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1489 Extracellular (Potential).|Fibronectin type-III 6. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GCATAATAAACCAGGTATGTT 0.398 NA T GOPC|ROS1 glioblastoma|NSCLC 4 56 1.024e-07 1.51927e-07 0.000602 1 0 CLVS2 134829 broad.mit.edu 37 6 123377007 123377007 + Missense_Mutation SNP C C G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr6:123377007C>G uc003pzi.1 + 5 1601 c.732C>G c.(730-732)ATC>ATG p.I244M NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 244 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 ATCCTGAGATCCTGCCCTCTG 0.453 NA 5 79 0 0 0.001168 0 0 MOXD1 26002 broad.mit.edu 37 6 132695862 132695862 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr6:132695862G>A uc003qdf.2 - 2 418 c.319C>T c.(319-321)CAT>TAT p.H107Y MOXD1_uc003qde.2_Missense_Mutation_p.H39Y NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 107 Lumenal (Potential).|DOMON. catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TATTCTAGATGGTAATCTTGC 0.338 NA 9 67 0 0 0.006214 0 0 GPNMB 10457 broad.mit.edu 37 7 23293804 23293804 + Silent SNP G G A rs149206943 TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr7:23293804G>A uc003swc.2 + 3 401 c.240G>A c.(238-240)GCG>GCA p.A80A GPNMB_uc003swa.2_Silent_p.A80A|GPNMB_uc003swb.2_Silent_p.A80A|GPNMB_uc011jyy.1_Silent_p.A80A|GPNMB_uc011jyz.1_Intron NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 80 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) GTGTGCAGGCGGTCCTGACCA 0.453 NA 15 106 0 0 0.004007 0 0 NPSR1 387129 broad.mit.edu 37 7 34851388 34851388 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr7:34851388C>A uc003teg.1 + 4 519 c.391C>A c.(391-393)CTG>ATG p.L131M AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.L131M|NPSR1_uc010kwt.1_Translation_Start_Site|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.L131M|NPSR1_uc010kww.1_Missense_Mutation_p.L120M|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 131 Helical; Name=3; (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) TTAGGTTGTGCTGCTCTACGC 0.468 NA 12 81 7.03913e-09 1.09444e-08 0.001368 1 0 WBSCR28 135886 broad.mit.edu 37 7 73279468 73279468 + Missense_Mutation SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr7:73279468T>A uc003tzk.2 + 2 254 c.218T>A c.(217-219)CTG>CAG p.L73Q RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR NM_182504 NP_872310 Q6UE05 WBS28_HUMAN hypothetical protein LOC135886 73 Helical; (Potential). integral to membrane breast(1) 1 Lung NSC(55;0.159) GCCTGCCCCCTGGGCCAGGCT 0.672 NA 8 123 0 0 0.00308 0 0 ABCB1 5243 broad.mit.edu 37 7 87190601 87190601 + Missense_Mutation SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr7:87190601C>T uc003uiz.1 - 9 1223 c.805G>A c.(805-807)GGA>AGA p.G269R ABCB1_uc011khc.1_Missense_Mutation_p.G205R NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 269 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTCTTTTGTCCTCCAAATGCA 0.353 NA 6 26 0 0 0.001168 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964765 88964765 + Silent SNP G G A rs148990105 TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr7:88964765G>A uc011khi.1 + 4 3007 c.2469G>A c.(2467-2469)ACG>ACA p.T823T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 823 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TAAAATCTACGAGAATCATCT 0.363 NA HNSCC(36;0.09) 4 57 0 0 0.000602 0 0 ZNF655 79027 broad.mit.edu 37 7 99170705 99170705 + Missense_Mutation SNP A A G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr7:99170705A>G uc003urh.2 + 3 1367 c.974A>G c.(973-975)CAC>CGC p.H325R ZNF655_uc010lga.2_Missense_Mutation_p.H360R|ZNF655_uc010lgc.2_Missense_Mutation_p.H360R|ZNF655_uc003urj.2_Missense_Mutation_p.H325R|ZNF655_uc003urk.2_Missense_Mutation_p.H162R|ZNF655_uc010lgd.2_Missense_Mutation_p.H162R NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 325 C2H2-type 3. G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) CAGAAAATTCACAAAGAGATG 0.413 NA 21 101 0 0 0.002299 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121701174 121701174 + Missense_Mutation SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr7:121701174T>A uc003vjy.2 + 30 7243 c.6848T>A c.(6847-6849)GTG>GAG p.V2283E PTPRZ1_uc003vjz.2_Missense_Mutation_p.V1416E|PTPRZ1_uc011knt.1_Missense_Mutation_p.V873E NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 2283 Cytoplasmic (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CTCAGCCTTGTGAGCACAAGG 0.428 NA 13 42 0 0 0.001855 0 0 C7orf45 136263 broad.mit.edu 37 7 129847876 129847876 + Silent SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr7:129847876G>T uc003vpp.2 + 1 173 c.126G>T c.(124-126)CTG>CTT p.L42L TMEM209_uc003vpn.2_5'Flank|TMEM209_uc010lmc.1_5'Flank|TMEM209_uc003vpo.2_5'Flank NM_145268 NP_660311 Q8WWF3 CG045_HUMAN hypothetical protein LOC136263 42 Helical; (Potential). integral to membrane 0 Melanoma(18;0.0435) GGAGCTTCCTGCTTTGGTATT 0.398 NA 21 103 1.36565e-18 2.52034e-18 0.00278 1 0 SVOPL 136306 broad.mit.edu 37 7 138312982 138312982 + Missense_Mutation SNP G G C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr7:138312982G>C uc011kqh.1 - 10 990 c.990C>G c.(988-990)AGC>AGG p.S330R SVOPL_uc003vue.2_Missense_Mutation_p.S178R NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 330 integral to membrane transmembrane transporter activity 0 AGGGGCTCTGGCTCTCCCCTG 0.572 NA 6 36 0 0 0.001168 0 0 CSMD1 64478 broad.mit.edu 37 8 2967820 2967820 + Silent SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr8:2967820G>T uc011kwk.1 - 43 6861 c.6471C>A c.(6469-6471)ACC>ACA p.T2157T CSMD1_uc011kwj.1_Silent_p.T1549T|CSMD1_uc010lrg.2_Silent_p.T225T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2157 Extracellular (Potential).|CUB 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGGAGTAGATGGTGCCGTTCT 0.488 NA 5 9 3.59834e-05 4.64104e-05 0.001168 1 0 SDC2 6383 broad.mit.edu 37 8 97605786 97605786 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr8:97605786G>T uc003yhv.1 + 2 757 c.139G>T c.(139-141)GAT>TAT p.D47Y SDC2_uc011lgu.1_Missense_Mutation_p.D18Y NM_002998 NP_002989 P34741 SDC2_HUMAN syndecan 2 precursor 47 Extracellular (Potential). integral to plasma membrane cytoskeletal protein binding|PDZ domain binding ovary(2) 2 Breast(36;3.41e-05) Sargramostim(DB00020) GTATCCTATTGATGACGATGA 0.478 NA 12 65 1.5842e-08 2.42982e-08 0.001855 1 0 KCNS2 3788 broad.mit.edu 37 8 99441377 99441377 + Silent SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr8:99441377T>A uc003yin.2 + 2 1520 c.1170T>A c.(1168-1170)ACT>ACA p.T390T NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 390 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GAAAGCTGACTGCCTCTGCCT 0.592 Pancreas(138;844 2489 9202 24627) NA 14 97 0 0 0.001855 0 0 RIMS2 9699 broad.mit.edu 37 8 105026764 105026764 + Silent SNP A A T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr8:105026764A>T uc003yls.2 + 17 2716 c.2475A>T c.(2473-2475)ACA>ACT p.T825T RIMS2_uc003ylp.2_Silent_p.T1085T|RIMS2_uc003ylw.2_Silent_p.T899T|RIMS2_uc003ylq.2_Silent_p.T899T|RIMS2_uc003ylr.2_Silent_p.T924T NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1147 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.H825L(1) ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTGTCCAGACAAGCCCATCAA 0.413 NA HNSCC(12;0.0054) 6 47 0 0 0.001984 0 0 CSMD3 114788 broad.mit.edu 37 8 113301663 113301663 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr8:113301663G>T uc003ynu.2 - 57 9238 c.9079C>A c.(9079-9081)CTT>ATT p.L3027I CSMD3_uc003yns.2_Missense_Mutation_p.L2229I|CSMD3_uc003ynt.2_Missense_Mutation_p.L2987I|CSMD3_uc011lhx.1_Missense_Mutation_p.L2858I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3027 Sushi 21.|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 TGGCCTAAAAGGGAACGCTTT 0.468 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 25 76 1.85244e-09 2.9823e-09 0.00333 1 0 KCNK9 51305 broad.mit.edu 37 8 140630797 140630797 + Missense_Mutation SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr8:140630797C>T uc003yvf.1 - 2 893 c.829G>A c.(829-831)GAG>AAG p.E277K KCNK9_uc003yvg.1_Missense_Mutation_p.E277K|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 277 Cytoplasmic (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CGCGGCTCCTCAGGGATGTGA 0.642 NA 4 51 0 0 0.009096 0 0 RANBP6 26953 broad.mit.edu 37 9 6012550 6012550 + Missense_Mutation SNP T T C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr9:6012550T>C uc003zjr.2 - 1 3069 c.3058A>G c.(3058-3060)ACT>GCT p.T1020A RANBP6_uc011lmf.1_Missense_Mutation_p.T668A|RANBP6_uc003zjs.2_Missense_Mutation_p.T608A NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 1020 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AAACTCAAAGTCTGAATAGCT 0.363 NA 9 51 0 0 0.004482 0 0 IFNA6 3443 broad.mit.edu 37 9 21350855 21350855 + Missense_Mutation SNP A A G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr9:21350855A>G uc011lni.1 - 1 32 c.32T>C c.(31-33)CTG>CCG p.L11P NM_021002 NP_066282 P05013 IFNA6_HUMAN interferon, alpha 6 precursor 11 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GAGCACCACCAGGGCCATCAG 0.522 NA 12 84 0 0 0.001855 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627630 43627630 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr9:43627630G>T uc011lrb.1 - 4 1086 c.1057C>A c.(1057-1059)CAA>AAA p.Q353K NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 353 integral to membrane 0 GGGGTCATTTGATTTGTAAAT 0.433 NA 81 220 8.6838e-40 1.62911e-39 0.00361 1 0 GDA 9615 broad.mit.edu 37 9 74860078 74860078 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr9:74860078G>A uc004aiq.2 + 12 1333 c.1150G>A c.(1150-1152)GGT>AGT p.G384S GDA_uc011lse.1_Missense_Mutation_p.G310S|GDA_uc011lsf.1_Missense_Mutation_p.G310S|GDA_uc004air.2_Missense_Mutation_p.G384S|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.G306S NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 384 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GGGGCTGGATGGTGAGATTGG 0.448 NA 24 89 0 0 0.004656 0 0 VPS13A 23230 broad.mit.edu 37 9 79984229 79984229 + Missense_Mutation SNP G G T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr9:79984229G>T uc004akr.2 + 63 8828 c.8568G>T c.(8566-8568)ATG>ATT p.M2856I VPS13A_uc004akp.3_Missense_Mutation_p.M2856I|VPS13A_uc004akq.3_Missense_Mutation_p.M2856I|VPS13A_uc004aks.2_Missense_Mutation_p.M2817I NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2856 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 TTAAGCAGATGTATGTACTCA 0.299 NA 22 82 2.21704e-12 3.75572e-12 0.00278 1 0 GRIN3A 116443 broad.mit.edu 37 9 104433094 104433094 + Missense_Mutation SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr9:104433094C>T uc004bbp.1 - 3 2201 c.1600G>A c.(1600-1602)GAA>AAA p.E534K GRIN3A_uc004bbq.1_Missense_Mutation_p.E534K NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 534 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CACAAGCCTTCATCATCTACC 0.473 NA 26 57 0 0 0.00333 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433100 104433100 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr9:104433100C>A uc004bbp.1 - 3 2195 c.1594G>T c.(1594-1596)GAT>TAT p.D532Y GRIN3A_uc004bbq.1_Missense_Mutation_p.D532Y NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 532 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CCTTCATCATCTACCTCCCTT 0.488 NA 26 63 5.45024e-15 9.59073e-15 0.00333 1 0 ABCA1 19 broad.mit.edu 37 9 107578428 107578428 + Missense_Mutation SNP T T C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr9:107578428T>C uc004bcl.2 - 25 4047 c.3734A>G c.(3733-3735)GAA>GGA p.E1245G NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1245 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACTTACTTCTTCCAGGGTCGT 0.488 NA 37 151 0 0 0.00623 0 0 AMBP 259 broad.mit.edu 37 9 116836424 116836424 + Missense_Mutation SNP T T C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr9:116836424T>C uc004bie.3 - 4 609 c.346A>G c.(346-348)ATA>GTA p.I116V AMBP_uc011lxk.1_Missense_Mutation_p.I57V|AMBP_uc010mvc.1_RNA NM_001633 NP_001624 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin preproprotein 116 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity skin(1) 1 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) TCCATGGTTATGTTCCATTCT 0.493 NA 9 30 0 0 0.008291 0 0 DBC1 1620 broad.mit.edu 37 9 122011272 122011272 + Nonsense_Mutation SNP G G T rs115548564 by1000genomes TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr9:122011272G>T uc004bkc.2 - 3 831 c.375C>A c.(373-375)TAC>TAA p.Y125* DBC1_uc004bkd.2_Nonsense_Mutation_p.Y125* NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 125 MACPF. cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 GGTGGGTGCCGTACTTTTTGA 0.562 NA 15 37 0.00316338 0.00357257 0.003163 1 0 NOTCH1 4851 broad.mit.edu 37 9 139413985 139413985 + Missense_Mutation SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr9:139413985C>T uc004chz.2 - 5 775 c.775G>A c.(775-777)GAC>AAC p.D259N NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 259 Extracellular (Potential).|EGF-like 7; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGACAATCGTCGATATTTTCC 0.627 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 12 164 0 0 0.000978 0 0 DDX53 168400 broad.mit.edu 37 X 23019760 23019760 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chrX:23019760G>A uc004daj.2 + 1 1674 c.1586G>A c.(1585-1587)CGA>CAA p.R529Q NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 529 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 ATAGTATCCCGAGGTCTTGAT 0.383 NA 6 129 0 0 0.001984 0 0 PDK3 5165 broad.mit.edu 37 X 24523382 24523382 + Missense_Mutation SNP G G C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chrX:24523382G>C uc004dbg.2 + 5 791 c.562G>C c.(562-564)GAT>CAT p.D188H PDK3_uc004dbh.2_Missense_Mutation_p.D188H NM_005391 NP_005382 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase 3 isoform 2 188 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 AGGAAGTATCGATCCCACCTG 0.453 NA 8 72 0 0 0.006214 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29417272 29417272 + Missense_Mutation SNP G G C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chrX:29417272G>C uc004dby.2 + 5 1058 c.550G>C c.(550-552)GAA>CAA p.E184Q NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 184 Ig-like C2-type 2.|Extracellular (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 CTTCATATAGGAATGCAGGAC 0.294 NA 4 68 0 0 0.000602 0 0 ZNF182 7569 broad.mit.edu 37 X 47836373 47836373 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chrX:47836373C>A uc004dir.2 - 7 1459 c.1113G>T c.(1111-1113)AAG>AAT p.K371N ZNF182_uc004dis.2_Missense_Mutation_p.K352N|ZNF182_uc004dit.2_Missense_Mutation_p.K371N|ZNF182_uc011mlu.1_Missense_Mutation_p.K351N NM_006962 NP_008893 P17025 ZN182_HUMAN zinc finger protein 21 isoform 1 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 CATGGGGTTTCTTTCCTGTAT 0.363 NA 7 128 1.12685e-05 1.47009e-05 0.004482 1 0 BMP15 9210 broad.mit.edu 37 X 50659497 50659497 + Missense_Mutation SNP T T G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chrX:50659497T>G uc011mnw.1 + 2 1069 c.1069T>G c.(1069-1071)TGT>GGT p.C357G NM_005448 NP_005439 O95972 BMP15_HUMAN bone morphogenetic protein 15 precursor 357 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity ovary(2) 2 Ovarian(276;0.236) CCGGCCCTCCTGTGTCCCGTA 0.463 NA 13 89 0 0 0.001855 0 0 IQSEC2 23096 broad.mit.edu 37 X 53280041 53280041 + Missense_Mutation SNP G G A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chrX:53280041G>A uc004dsd.2 - 5 1918 c.1717C>T c.(1717-1719)CGC>TGC p.R573C IQSEC2_uc004dsc.2_Missense_Mutation_p.R368C NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 563 Pro-rich. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 GGACCCCTGCGAGTGCCTTCC 0.677 NA 8 18 0 0 0.00308 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74644525 74644525 + Missense_Mutation SNP T T G TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chrX:74644525T>G uc004ecg.2 - 8 1176 c.698A>C c.(697-699)TAC>TCC p.Y233S ZDHHC15_uc004ech.2_Missense_Mutation_p.Y224S|ZDHHC15_uc011mqo.1_RNA NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 isoform 1 233 integral to membrane zinc ion binding ovary(2) 2 CCAACAATGGTAACCAAAGAG 0.393 NA 3 21 0 0 0.004672 0 0 ATRX 546 broad.mit.edu 37 X 76855002 76855002 + Missense_Mutation SNP C C T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chrX:76855002C>T uc004ecp.3 - 25 6066 c.5834G>A c.(5833-5835)GGA>GAA p.G1945E ATRX_uc004ecq.3_Missense_Mutation_p.G1907E|ATRX_uc004eco.3_Missense_Mutation_p.G1730E NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1945 Poly-Ser. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) ACTGCCACTTCCACTTGAGCT 0.333 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 44 383 0 0 0.00361 0 0 P2RY10 27334 broad.mit.edu 37 X 78216671 78216671 + Silent SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chrX:78216671C>A uc004ede.2 + 4 1023 c.654C>A c.(652-654)ACC>ACA p.T218T P2RY10_uc004edf.2_Silent_p.T218T NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 218 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 CATGGTGTACCTGGAAAACTA 0.478 NA 10 44 3.07112e-06 4.05316e-06 0.000978 1 0 COL4A6 1288 broad.mit.edu 37 X 107431764 107431764 + Missense_Mutation SNP C C A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chrX:107431764C>A uc004enw.3 - 21 1676 c.1573G>T c.(1573-1575)GGC>TGC p.G525C COL4A6_uc004env.3_Missense_Mutation_p.G524C|COL4A6_uc011msn.1_Missense_Mutation_p.G524C|COL4A6_uc010npk.2_Missense_Mutation_p.G524C NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 525 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 CCTGCTGGGCCCTGTGCACCC 0.572 Melanoma(87;1895 1945 2589 7165) NA Alport_syndrome_with_Diffuse_Leiomyomatosis 6 56 2.0095e-06 2.73147e-06 0.001984 1 0 OR10Z1 128368 broad.mit.edu 37 1 158576398 158576398 + Frame_Shift_Del DEL C C - TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:158576398delC uc010pio.1 + 1 170 c.170delC c.(169-171)ACCfs p.T57fs NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) CATCTGCACACCCCCATGTAC 0.517 NA 17 343 --- --- --- --- NA NA NA NA NA LY9 4063 broad.mit.edu 37 1 160793397 160793398 + Frame_Shift_Ins INS - - A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:160793397_160793398insA uc001fwu.2 + 8 1691_1692 c.1641_1642insA c.(1639-1644)GAGGACfs p.E547fs LY9_uc001fwv.2_Frame_Shift_Ins_p.E533fs|LY9_uc001fww.2_Frame_Shift_Ins_p.E457fs|LY9_uc001fwx.2_Frame_Shift_Ins_p.E457fs|LY9_uc001fwy.1_Frame_Shift_Ins_p.E345fs|LY9_uc001fwz.2_Frame_Shift_Ins_p.E185fs NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 547_548 Cytoplasmic (Potential). cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AGGAGGATGAGGACAGGCCTGA 0.584 NA 9 98 --- --- --- --- NA NA NA NA NA NLRP3 114548 broad.mit.edu 37 1 247588812 247588812 + Frame_Shift_Del DEL G G - TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr1:247588812delG uc001icr.2 + 5 2205 c.2067delG c.(2065-2067)AAGfs p.K689fs NLRP3_uc001ics.2_Frame_Shift_Del_p.K689fs|NLRP3_uc001icu.2_Frame_Shift_Del_p.K689fs|NLRP3_uc001icw.2_Frame_Shift_Del_p.K689fs|NLRP3_uc001icv.2_Frame_Shift_Del_p.K689fs|NLRP3_uc010pyw.1_Frame_Shift_Del_p.K687fs|NLRP3_uc001ict.1_Frame_Shift_Del_p.K687fs NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 689 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ACATGCCCAAGGAGGAAGAGG 0.512 NA 7 59 --- --- --- --- NA NA NA NA NA CNOT1 23019 broad.mit.edu 37 16 58620484 58620503 + Frame_Shift_Del DEL TCTTGTCCAACTCCAAAGGC TCTTGTCCAACTCCAAAGGC - TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 TCTTGTCCAACTCCAAAGGC TCTTGTCCAACTCCAAAGGC - - TCTTGTCCAACTCCAAAGGC TCTTGTCCAACTCCAAAGGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr16:58620484_58620503delTCTTGTCCAACTCCAAAGGC uc002env.2 - 7 876_895 c.583_602delGCCTTTGGAGTTGGACAAGA c.(583-603)GCCTTTGGAGTTGGACAAGAAfs p.A195fs CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Frame_Shift_Del_p.A195fs|CNOT1_uc002enx.2_Frame_Shift_Del_p.A195fs|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 195_201 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GTCTATCTGTTCTTGTCCAACTCCAAAGGCTCCCTTCTGC 0.491 NA 42 297 --- --- --- --- NA NA NA NA NA WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 GCA GCA - - GCA GCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr19:36583666_36583668delGCA uc002odc.2 + 19 2377_2379 c.2286_2288delGCA c.(2284-2289)CGGCAG>CGG p.Q766del WDR62_uc002odd.2_In_Frame_Del_p.Q766del NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 766 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.567 NA 7 130 --- --- --- --- NA NA NA NA NA ZNF142 7701 broad.mit.edu 37 2 219508459 219508459 + Frame_Shift_Del DEL G G - TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:219508459delG uc002vin.2 - 8 3216 c.2780delC c.(2779-2781)CCAfs p.P927fs ZNF142_uc002vil.2_Frame_Shift_Del_p.P888fs|ZNF142_uc010fvt.2_Frame_Shift_Del_p.P764fs|ZNF142_uc002vim.2_Frame_Shift_Del_p.P764fs NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 927 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGATGCAGGTGGGGGCTTCCC 0.547 Colon(170;867 1942 8995 15834 18053) NA 31 185 --- --- --- --- NA NA NA NA NA SPEG 10290 broad.mit.edu 37 2 220313626 220313626 + Frame_Shift_Del DEL G G - TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr2:220313626delG uc010fwg.2 + 4 1746 c.1746delG c.(1744-1746)CCGfs p.P582fs SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 582 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGACAGAGCCGGGGGAAGGCC 0.771 NA 2 4 --- --- --- --- NA NA NA NA NA MEI1 150365 broad.mit.edu 37 22 42110055 42110055 + Frame_Shift_Del DEL C C - TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr22:42110055delC uc003baz.1 + 4 424 c.399delC c.(397-399)TGCfs p.C133fs MEI1_uc003bay.3_Frame_Shift_Del_p.C133fs|MEI1_uc011apd.1_RNA NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 133 binding central_nervous_system(1)|skin(1) 2 CTATCCGTTGCCTGCTGGATG 0.363 NA 2 4 --- --- --- --- NA NA NA NA NA FAM71B 153745 broad.mit.edu 37 5 156589877 156589877 + Frame_Shift_Del DEL G G - TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr5:156589877delG uc003lwn.2 - 2 1499 c.1399delC c.(1399-1401)CACfs p.H467fs NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 467 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCGGACCGGTGGGAAGACGCT 0.517 NA 14 167 --- --- --- --- NA NA NA NA NA TMEM67 91147 broad.mit.edu 37 8 94821088 94821088 + Frame_Shift_Del DEL A A - TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr8:94821088delA uc011lgk.1 + 24 2531 c.2460delA c.(2458-2460)AGAfs p.R820fs TMEM67_uc010maw.2_Frame_Shift_Del_p.R526fs|TMEM67_uc003yga.3_Frame_Shift_Del_p.R739fs|TMEM67_uc011lgl.1_Frame_Shift_Del_p.R219fs NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 820 R -> S (in COACHS). cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GTAGCCAGAGAGGTTTGGTAC 0.313 NA 14 79 --- --- --- --- NA NA NA NA NA SQLE 6713 broad.mit.edu 37 8 126011893 126011893 + Frame_Shift_Del DEL C C - TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr8:126011893delC uc011liq.1 + 1 1174 c.248delC c.(247-249)TCCfs p.S83fs NM_003129 NP_003120 Q14534 ERG1_HUMAN squalene epoxidase 83 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity ovary(1)|breast(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) TGGGCCAAATCCCCCCCTGAA 0.547 NA 7 36 --- --- --- --- NA NA NA NA NA SUSD1 64420 broad.mit.edu 37 9 114842405 114842405 + Frame_Shift_Del DEL G G - TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9982bd67-c7eb-4c68-b9c4-2907ef244790 df1444af-0bbc-4596-863f-47afa29cae67 g.chr9:114842405delG uc004bfu.2 - 11 1556 c.1515delC c.(1513-1515)ACCfs p.T505fs SUSD1_uc010mui.2_Frame_Shift_Del_p.T505fs|SUSD1_uc010muj.2_Frame_Shift_Del_p.T505fs NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 505 Extracellular (Potential). integral to membrane calcium ion binding 0 ATCTCAAGCAGGTTTCATTAA 0.338 NA 7 83 --- --- --- --- NA NA NA NA NA