Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values RHBG 57127 broad.mit.edu 37 1 156351656 156351656 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr1:156351656G>A uc010pho.1 + 6 938 c.900G>A c.(898-900)ATG>ATA p.M300I RHBG_uc010phm.1_Missense_Mutation_p.M138I|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Missense_Mutation_p.M231I|RHBG_uc009wrz.2_Missense_Mutation_p.M268I|RHBG_uc001for.2_Missense_Mutation_p.M270I NM_020407 NP_065140 Q9H310 RHBG_HUMAN Rhesus blood group, B glycoprotein 300 Helical; (Potential). transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding ovary(2) 2 Hepatocellular(266;0.158) CAAGTGAAATGATGCTGACAC 0.557 FCRL6 343413 broad.mit.edu 37 1 159779344 159779344 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr1:159779344G>T uc001fud.3 + 5 799 c.757G>T c.(757-759)GCT>TCT p.A253S FCRL6_uc001fuc.2_Missense_Mutation_p.A260S|FCRL6_uc009wsz.1_Missense_Mutation_p.A158S|FCRL6_uc009wta.2_Missense_Mutation_p.A253S NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 precursor 253 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.0597) GAACCACTCAGCTCCCTGTGG 0.567 FAM5C 339479 broad.mit.edu 37 1 190067205 190067205 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr1:190067205C>T uc001gse.1 - 8 2476 c.2244G>A c.(2242-2244)GCG>GCA p.A748A FAM5C_uc010pot.1_Silent_p.A646A NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 748 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGGCATTAAACGCCTGCAGAG 0.423 RAB3GAP2 25782 broad.mit.edu 37 1 220366601 220366601 + Silent SNP A A G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr1:220366601A>G uc010puk.1 - 13 1415 c.1251T>C c.(1249-1251)ATT>ATC p.I417I RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 417 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) TGCGTATTGCAATTCCTCTAG 0.388 PRSS38 339501 broad.mit.edu 37 1 228003908 228003908 + Missense_Mutation SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr1:228003908T>C uc001hrh.2 + 2 266 c.266T>C c.(265-267)ATC>ACC p.I89T NM_183062 NP_898885 A1L453 PRS38_HUMAN marapsin 2 precursor 89 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1)|pancreas(1) 2 GGCGGCTCCATCCTCAATGAG 0.667 KIF26B 55083 broad.mit.edu 37 1 245849034 245849034 + Nonsense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr1:245849034G>T uc001ibf.1 + 12 3189 c.2749G>T c.(2749-2751)GAA>TAA p.E917* KIF26B_uc001ibg.1_Nonsense_Mutation_p.E535*|KIF26B_uc001ibh.1_Nonsense_Mutation_p.E159* NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 917 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CGGCAAGTCAGAAAGGGACTG 0.642 LGI1 9211 broad.mit.edu 37 10 95557278 95557278 + Silent SNP G G A rs148804268 TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr10:95557278G>A uc001kjc.3 + 8 1728 c.1392G>A c.(1390-1392)TCG>TCA p.S464S LGI1_uc010qnv.1_Silent_p.S416S|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 464 EAR 6. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) GAGGCTCCTCGTTCCAGGATA 0.438 PKP3 11187 broad.mit.edu 37 11 397169 397169 + Missense_Mutation SNP C C G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:397169C>G uc001lpc.2 + 3 744 c.668C>G c.(667-669)TCC>TGC p.S223C NM_007183 NP_009114 Q9Y446 PKP3_HUMAN plakophilin 3 223 cell adhesion desmosome|nucleus binding skin(1) 1 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCTCCAGCTCCAGCCGGGCA 0.711 OR52E4 390081 broad.mit.edu 37 11 5906083 5906083 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:5906083C>T uc010qzs.1 + 1 561 c.561C>T c.(559-561)GCC>GCT p.A187A TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGGTCTGGCCGGGTTGGCCT 0.443 CTR9 9646 broad.mit.edu 37 11 10785357 10785357 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:10785357C>T uc001mja.2 + 9 1274 c.1125C>T c.(1123-1125)TAC>TAT p.Y375Y NM_014633 NP_055448 Q6PD62 CTR9_HUMAN SH2 domain binding protein 1 375 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck ovary(2) 2 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CTAATAATTACGAAACTATGA 0.348 NAV2 89797 broad.mit.edu 37 11 20122686 20122686 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:20122686G>A uc001mpr.3 + 32 6755 c.6394G>A c.(6394-6396)GCC>ACC p.A2132T NAV2_uc001mpp.2_Missense_Mutation_p.A2065T|NAV2_uc009yhx.2_Missense_Mutation_p.A1193T|NAV2_uc009yhz.2_Missense_Mutation_p.A774T|NAV2_uc001mpu.2_Missense_Mutation_p.A567T NM_182964 NP_892009 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 1 2188 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 CGGGGTTATCGCCACCTTTAA 0.522 OR5AS1 219447 broad.mit.edu 37 11 55798075 55798075 + Missense_Mutation SNP T T G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:55798075T>G uc010riw.1 + 1 181 c.181T>G c.(181-183)TAT>GAT p.Y61D NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TCCCATGTATTATTTTCTTAG 0.343 OR8I2 120586 broad.mit.edu 37 11 55861192 55861192 + Missense_Mutation SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:55861192T>C uc010rix.1 + 1 409 c.409T>C c.(409-411)TCC>CCC p.S137P NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) AGTAGTCATGTCCCAAAAAGT 0.448 OR5R1 219479 broad.mit.edu 37 11 56185107 56185107 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:56185107G>A uc010rji.1 - 1 602 c.602C>T c.(601-603)GCC>GTC p.A201V NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GCCAGCAAAGGCAAATATCAG 0.438 ANO1 55107 broad.mit.edu 37 11 69934066 69934066 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:69934066C>T uc001opj.2 + 2 622 c.317C>T c.(316-318)GCG>GTG p.A106V ANO1_uc001opk.1_Missense_Mutation_p.A78V|ANO1_uc001opl.1_RNA NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 106 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 GGCAAGGGGGCGTCGCTGGAT 0.706 ODZ4 26011 broad.mit.edu 37 11 78380911 78380911 + Missense_Mutation SNP C C T rs144957611 by1000genomes TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:78380911C>T uc001ozl.3 - 32 6942 c.6479G>A c.(6478-6480)CGC>CAC p.R2160H ODZ4_uc001ozk.3_Missense_Mutation_p.R385H|ODZ4_uc009yvb.1_Missense_Mutation_p.R744H NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2160 YD 16.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CATGAGCGAGCGGAAGATCTC 0.488 FZD4 8322 broad.mit.edu 37 11 86663299 86663299 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:86663299C>A uc001pce.2 - 2 805 c.499G>T c.(499-501)GTG>TTG p.V167L PRSS23_uc001pcc.1_RNA NM_012193 NP_036325 Q9ULV1 FZD4_HUMAN frizzled 4 precursor 167 Extracellular (Potential). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding large_intestine(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GGTAAGGGCACCTCTTCATCA 0.522 APOA4 337 broad.mit.edu 37 11 116691970 116691970 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:116691970C>T uc001pps.1 - 3 908 c.804G>A c.(802-804)GCG>GCA p.A268A NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CGGCCAAGGGCGCCAGCCTCT 0.662 HINFP 25988 broad.mit.edu 37 11 119002253 119002253 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:119002253C>T uc001pvp.2 + 5 609 c.420C>T c.(418-420)TTC>TTT p.F140F HINFP_uc001pvq.2_Silent_p.F140F|HINFP_uc001pvr.2_5'UTR NM_015517 NP_056332 Q9BQA5 HINFP_HUMAN MBD2 (methyl-CpG-binding protein)-interacting 140 C2H2-type 2. DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 AGAATTCCTTCGACAATCCTG 0.542 PANX3 116337 broad.mit.edu 37 11 124487353 124487353 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:124487353G>A uc001qah.2 + 3 508 c.508G>A c.(508-510)GAC>AAC p.D170N NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 170 Cytoplasmic (Potential). protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) GAAGAGTTCCGACCCCTATGT 0.458 CACNA2D4 93589 broad.mit.edu 37 12 1992145 1992145 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr12:1992145G>A uc001qjp.2 - 13 1604 c.1373C>T c.(1372-1374)ACG>ATG p.T458M CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.T346M NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 458 VWFA.|Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GTCCGCCAGCGTTGAGATCTG 0.642 KCNA6 3742 broad.mit.edu 37 12 4919260 4919260 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr12:4919260C>T uc001qng.2 + 1 919 c.53C>T c.(52-54)CCG>CTG p.P18L NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 18 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 GTCCGTGGGCCGGAGGGAGAG 0.706 HNSCC(72;0.22) PZP 5858 broad.mit.edu 37 12 9333627 9333627 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr12:9333627G>T uc001qvl.2 - 15 1820 c.1791C>A c.(1789-1791)GAC>GAA p.D597E PZP_uc009zgl.2_Missense_Mutation_p.D466E NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 GCACACTTTGGTCCACAGCAC 0.587 OVCH1 341350 broad.mit.edu 37 12 29649590 29649590 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr12:29649590G>A uc001rix.1 - 2 82 c.82C>T c.(82-84)CGC>TGC p.R28C NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 28 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TTGACCATGCGAATTCCACAC 0.428 UBE3B 89910 broad.mit.edu 37 12 109921443 109921443 + Silent SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr12:109921443G>A uc001top.2 + 3 690 c.87G>A c.(85-87)CGG>CGA p.R29R UBE3B_uc001toq.2_Silent_p.R29R|UBE3B_uc001tol.1_Silent_p.R29R|UBE3B_uc001tom.2_Silent_p.R29R|UBE3B_uc001ton.2_Silent_p.R29R|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.R29R|UBE3B_uc001tor.2_Silent_p.R29R NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 29 IQ. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 AGAAGGAACGGGAGCGGGCAG 0.542 C12orf51 283450 broad.mit.edu 37 12 112667572 112667572 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr12:112667572C>T uc009zwc.2 - 34 5201 c.5183G>A c.(5182-5184)CGC>CAC p.R1728H C12orf51_uc001ttr.1_5'Flank NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 AACGGCCTGGCGTGCAATTCT 0.493 GOLGA3 2802 broad.mit.edu 37 12 133353343 133353343 + Splice_Site SNP C C G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr12:133353343C>G uc001ukz.1 - 21 4415 c.3856_splice c.e21-1 p.M1286_splice GOLGA3_uc001ula.1_Splice_Site_p.M1286_splice NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GATTTTCCATCTAAAGAGGGG 0.438 DCLK1 9201 broad.mit.edu 37 13 36686248 36686248 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr13:36686248G>A uc001uvf.2 - 3 714 c.481C>T c.(481-483)CGG>TGG p.R161W NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 161 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GACACTGCCCGAGAAGCCGAG 0.522 DLEU7 220107 broad.mit.edu 37 13 51417425 51417425 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr13:51417425C>T uc001vez.2 - 1 461 c.358G>A c.(358-360)GCG>ACG p.A120T DLEU7_uc001vex.2_Missense_Mutation_p.A120T|uc001vey.2_Intron NM_198989 NP_945340 Q6UYE1 LEU7_HUMAN deleted in lymphocytic leukemia, 7 120 0 Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.25e-08) CGGGCCAGCGCGCTGCGCATC 0.706 PCDH9 5101 broad.mit.edu 37 13 67799641 67799641 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr13:67799641C>T uc001vik.2 - 2 3624 c.2932G>A c.(2932-2934)GAC>AAC p.D978N PCDH9_uc001vil.2_Missense_Mutation_p.D978N|PCDH9_uc010thl.1_Missense_Mutation_p.D978N|PCDH9_uc001vin.3_Missense_Mutation_p.D978N NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 978 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GAAAGGGTGTCACAACCCCCA 0.498 RPL10L 140801 broad.mit.edu 37 14 47120719 47120719 + Missense_Mutation SNP T T A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr14:47120719T>A uc001wwg.2 - 1 310 c.221A>T c.(220-222)AAA>ATA p.K74I NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 74 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 CACCATGTATTTGTTGGCACA 0.522 SPRED1 161742 broad.mit.edu 37 15 38632001 38632001 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr15:38632001G>A uc001zka.3 + 5 822 c.487G>A c.(487-489)GTT>ATT p.V163I NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 163 inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) AGAGACAGTTGTTACCAGTGA 0.423 Legius_syndrome SPTBN5 51332 broad.mit.edu 37 15 42154034 42154034 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr15:42154034C>T uc001zos.2 - 45 7864 c.7531G>A c.(7531-7533)GAC>AAC p.D2511N NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2546 Spectrin 22. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TGGCGAATGTCGGAGCTGAAG 0.637 ERCC4 2072 broad.mit.edu 37 16 14042001 14042001 + Missense_Mutation SNP G G C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr16:14042001G>C uc002dce.2 + 11 2557 c.2548G>C c.(2548-2550)GAC>CAC p.D850H ERCC4_uc010uyz.1_Missense_Mutation_p.D400H NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 850 Interaction with EME1 and ERCC1. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 TGGTCCCCAAGACTTCTTGTT 0.498 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum COG7 91949 broad.mit.edu 37 16 23415150 23415150 + Silent SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr16:23415150T>C uc002dlo.2 - 13 1856 c.1668A>G c.(1666-1668)AAA>AAG p.K556K NM_153603 NP_705831 P83436 COG7_HUMAN component of oligomeric golgi complex 7 556 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 GBM - Glioblastoma multiforme(48;0.0401) TGCTTGACCCTTTTTCCTAAG 0.507 TAOK2 9344 broad.mit.edu 37 16 29997928 29997928 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr16:29997928G>T uc002dva.1 + 16 3118 c.2335G>T c.(2335-2337)GGC>TGC p.G779C uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.G786C|TAOK2_uc002dvd.1_Missense_Mutation_p.G606C NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 779 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CTGCTCACCTGGCCAGGAGGC 0.627 GLG1 2734 broad.mit.edu 37 16 74530507 74530507 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr16:74530507C>A uc002fcy.3 - 5 860 c.810G>T c.(808-810)TTG>TTT p.L270F GLG1_uc002fcx.2_Missense_Mutation_p.L270F|GLG1_uc002fcw.3_Missense_Mutation_p.L259F|GLG1_uc002fcz.3_Intron NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 270 Extracellular (Potential).|Cys-rich GLG1 3. Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 GGCCTTTCTCCAAGCATGATA 0.403 FAM92B 339145 broad.mit.edu 37 16 85141652 85141652 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr16:85141652C>A uc010vok.1 - 3 465 c.309G>T c.(307-309)CAG>CAT p.Q103H NM_198491 NP_940893 Q6ZTR7 FA92B_HUMAN hypothetical protein LOC339145 103 central_nervous_system(1) 1 TCTGCTTGATCTGTGCCCCGT 0.647 NEURL4 84461 broad.mit.edu 37 17 7230973 7230973 + Silent SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr17:7230973G>A uc002gga.1 - 2 520 c.513C>T c.(511-513)CTC>CTT p.L171L NEURL4_uc002ggb.1_Silent_p.L171L|NEURL4_uc002ggc.1_5'Flank NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 171 NHR 1. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 CATTCACCCAGAGCCGAAGCT 0.642 TP53 7157 broad.mit.edu 37 17 7579406 7579406 + Nonsense_Mutation SNP G G C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr17:7579406G>C uc002gim.2 - 4 475 c.281C>G c.(280-282)TCA>TGA p.S94* TP53_uc002gig.1_Nonsense_Mutation_p.S94*|TP53_uc002gih.2_Nonsense_Mutation_p.S94*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.S94*|TP53_uc010cni.1_Nonsense_Mutation_p.S94*|TP53_uc002gij.2_Nonsense_Mutation_p.S94*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.S55*|TP53_uc010cnk.1_Nonsense_Mutation_p.S109* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 94 Interaction with WWOX. S -> L (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.S94*(3)|p.G59fs*23(3)|p.S94T(2)|p.V73fs*9(1)|p.S94fs*29(1)|p.S94fs*54(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GACAGAAGATGACAGGGGCCA 0.627 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) SMCHD1 23347 broad.mit.edu 37 18 2760681 2760681 + Missense_Mutation SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr18:2760681T>C uc002klm.3 + 35 4567 c.4378T>C c.(4378-4380)TAT>CAT p.Y1460H SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1460 chromosome organization ATP binding 0 AGTGGGGACATATTGTATCCA 0.299 NETO1 81832 broad.mit.edu 37 18 70526277 70526277 + Missense_Mutation SNP C C G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr18:70526277C>G uc002lkw.2 - 4 537 c.253G>C c.(253-255)GAT>CAT p.D85H NETO1_uc002lkx.1_Missense_Mutation_p.D84H|NETO1_uc002lky.1_Missense_Mutation_p.D85H|NETO1_uc002lkz.2_Missense_Mutation_p.D84H NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 85 CUB 1.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TACTTTTCATCAAAGTAAAGT 0.383 SCAF1 58506 broad.mit.edu 37 19 50156862 50156862 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr19:50156862C>T uc002poq.2 + 7 3340 c.3216C>T c.(3214-3216)GAC>GAT p.D1072D NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1072 mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GGGCGGAGGACGGGCCAGCTT 0.711 BCL2L12 83596 broad.mit.edu 37 19 50172124 50172124 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr19:50172124C>T uc002ppa.2 + 4 1201 c.519C>T c.(517-519)GAC>GAT p.D173D IRF3_uc002pou.2_5'Flank|IRF3_uc002pov.2_5'Flank|IRF3_uc002pow.2_5'Flank|BCL2L12_uc002ppb.2_Silent_p.D172D NM_138639 NP_619580 Q9HB09 B2L12_HUMAN BCL2-like 12 isoform 1 173 apoptosis central_nervous_system(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CTACTCCAGACTTCTATGCTT 0.557 U2AF2 11338 broad.mit.edu 37 19 56172483 56172483 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr19:56172483C>T uc002qlu.2 + 5 1469 c.414C>T c.(412-414)CCC>CCT p.P138P U2AF2_uc002qlt.2_Silent_p.P138P NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 138 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CGCCGGTGCCCGTGGTCGGGA 0.537 DUXA 503835 broad.mit.edu 37 19 57666682 57666682 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr19:57666682G>A uc002qoa.1 - 5 542 c.497C>T c.(496-498)GCG>GTG p.A166V NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN double homeobox A 166 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TTCTAAGGACGCCACAGGTTC 0.428 SMC6 79677 broad.mit.edu 37 2 17847705 17847705 + Missense_Mutation SNP A A C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:17847705A>C uc002rco.2 - 27 3439 c.3143T>G c.(3142-3144)CTC>CGC p.L1048R SMC6_uc010exo.2_Missense_Mutation_p.L1048R|SMC6_uc002rcn.2_Missense_Mutation_p.L1048R NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 1048 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTGAGGTGTGAGCAAGATAAA 0.318 TTC27 55622 broad.mit.edu 37 2 33007732 33007732 + Nonsense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:33007732C>T uc002rom.2 + 15 2050 c.1819C>T c.(1819-1821)CGA>TGA p.R607* TTC27_uc010ymx.1_Nonsense_Mutation_p.R557*|TTC27_uc002ron.2_RNA NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 607 TPR 5.|HAT 2. protein binding central_nervous_system(1) 1 TTCCTATATCCGATTAAAACA 0.289 SLC8A1 6546 broad.mit.edu 37 2 40366566 40366566 + Silent SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:40366566G>A uc002rrx.2 - 9 2544 c.2520C>T c.(2518-2520)TTC>TTT p.F840F uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.F835F|SLC8A1_uc002rrz.2_Silent_p.F827F|SLC8A1_uc002rsa.2_Silent_p.F804F|SLC8A1_uc002rsd.3_Silent_p.F804F NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 840 Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CAAGTGCGACGAACACGACTG 0.463 ALMS1 7840 broad.mit.edu 37 2 73677419 73677419 + Missense_Mutation SNP T T A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:73677419T>A uc002sje.1 + 10 3879 c.3768T>A c.(3766-3768)GAT>GAA p.D1256E ALMS1_uc002sjf.1_Missense_Mutation_p.D1212E|ALMS1_uc002sjg.2_Missense_Mutation_p.D642E|ALMS1_uc002sjh.1_Missense_Mutation_p.D642E NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1254 16.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TCTTGCCAGATAATCATCCAA 0.473 AFF3 3899 broad.mit.edu 37 2 100210469 100210469 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:100210469C>T uc002tag.2 - 14 1890 c.1654G>A c.(1654-1656)GCG>ACG p.A552T AFF3_uc002taf.2_Missense_Mutation_p.A577T|AFF3_uc010fiq.1_Missense_Mutation_p.A552T|AFF3_uc010yvr.1_Missense_Mutation_p.A705T|AFF3_uc002tah.1_Missense_Mutation_p.A577T NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 552 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 GCCACGGCCGCGGGCGGGGAC 0.701 EDAR 10913 broad.mit.edu 37 2 109513576 109513576 + Silent SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:109513576G>A uc002teq.3 - 12 1565 c.1134C>T c.(1132-1134)GCC>GCT p.A378A EDAR_uc010fjn.2_Silent_p.A410A|EDAR_uc010yws.1_Silent_p.A410A NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor precursor 378 Death.|Cytoplasmic (Potential). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity skin(1) 1 CGAAGCTCTCGGCGAGGTGGC 0.572 FBLN7 129804 broad.mit.edu 37 2 112942907 112942907 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:112942907C>T uc002tho.1 + 7 1209 c.938C>T c.(937-939)ACG>ATG p.T313M FBLN7_uc002thn.2_Missense_Mutation_p.T313M|FBLN7_uc010fki.1_Missense_Mutation_p.T267M|FBLN7_uc010fkj.1_Missense_Mutation_p.T179M NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN fibulin 7 isoform 1 313 EGF-like 3; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding ovary(1)|central_nervous_system(1) 2 TACGTGAAGACGTCTCCATTG 0.602 LRP1B 53353 broad.mit.edu 37 2 141031994 141031994 + Missense_Mutation SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:141031994T>C uc002tvj.1 - 85 14113 c.13141A>G c.(13141-13143)AAC>GAC p.N4381D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4381 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCCACTTACTTGCAAAATATA 0.368 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141072650 141072650 + Missense_Mutation SNP G G C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:141072650G>C uc002tvj.1 - 83 13631 c.12659C>G c.(12658-12660)ACT>AGT p.T4220S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4220 Extracellular (Potential).|EGF-like 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTTTCACAAGTTAACTTACA 0.313 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141473650 141473650 + Missense_Mutation SNP T T A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:141473650T>A uc002tvj.1 - 37 6887 c.5915A>T c.(5914-5916)CAT>CTT p.H1972L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1972 Extracellular (Potential).|LDL-receptor class B 20. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTTGAAACCATGATCTGTCCA 0.328 TSP Lung(27;0.18) NEB 4703 broad.mit.edu 37 2 152425193 152425193 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:152425193G>A uc010fnx.2 - 83 12661 c.12470C>T c.(12469-12471)ACG>ATG p.T4157M NEB_uc002txr.2_Missense_Mutation_p.T580M NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4157 Nebulin 114. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) ATCCACAGGCGTAAAGTTGAG 0.373 EVX2 344191 broad.mit.edu 37 2 176946938 176946938 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:176946938C>T uc010zeu.1 - 2 853 c.667G>A c.(667-669)GCG>ACG p.A223T NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 223 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) TTGAGTGCCGCGGCCAGCTCG 0.627 TTN 7273 broad.mit.edu 37 2 179464329 179464329 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:179464329C>A uc010zfg.1 - 238 48819 c.48595G>T c.(48595-48597)GTA>TTA p.V16199L uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V9894L|TTN_uc010zfi.1_Missense_Mutation_p.V9827L|TTN_uc010zfj.1_Missense_Mutation_p.V9702L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17126 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) AGATTATTTACAGCTGTGATG 0.398 TTN 7273 broad.mit.edu 37 2 179647717 179647717 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:179647717C>T uc010zfg.1 - 18 3140 c.2916G>A c.(2914-2916)CCG>CCA p.P972P TTN_uc010zfh.1_Silent_p.P926P|TTN_uc010zfi.1_Silent_p.P926P|TTN_uc010zfj.1_Silent_p.P926P|TTN_uc002unb.2_Silent_p.P972P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 972 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) ATGTCACTGTCGGGGATGGGT 0.433 SF3B1 23451 broad.mit.edu 37 2 198257729 198257729 + Missense_Mutation SNP A A C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:198257729A>C uc002uue.2 - 24 3771 c.3723T>G c.(3721-3723)ATT>ATG p.I1241M NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 1241 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) TACATGGTCCAATAGCAACTC 0.313 CYP20A1 57404 broad.mit.edu 37 2 204111644 204111644 + Missense_Mutation SNP T T G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:204111644T>G uc002uzv.3 + 3 911 c.289T>G c.(289-291)TCG>GCG p.S97A CYP20A1_uc002uzx.3_Intron|CYP20A1_uc010zif.1_Missense_Mutation_p.S97A|CYP20A1_uc002uzy.3_Intron|CYP20A1_uc002uzw.3_RNA NM_177538 NP_803882 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, 97 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 CAATAAGACATGTAAGTTTAA 0.318 FASTKD2 22868 broad.mit.edu 37 2 207655332 207655332 + Silent SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:207655332T>C uc002vbu.2 + 11 2345 c.1935T>C c.(1933-1935)TGT>TGC p.C645C FASTKD2_uc002vbv.2_Silent_p.C645C|FASTKD2_uc002vbx.2_Silent_p.C645C|FASTKD2_uc002vbw.1_3'UTR NM_001136193 NP_001129665 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 645 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|skin(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) CTGCTTATTGTTTGGGTTCAA 0.363 SPP2 6694 broad.mit.edu 37 2 234959729 234959729 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:234959729C>T uc002vvk.1 + 2 285 c.200C>T c.(199-201)TCA>TTA p.S67L SPP2_uc010fyl.1_Intron NM_006944 NP_008875 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa precursor 67 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity 0 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) TTCAGAAGCTCATTAAAAAGA 0.418 C20orf26 26074 broad.mit.edu 37 20 20243679 20243679 + Missense_Mutation SNP C C A rs145071038 by1000genomes TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr20:20243679C>A uc002wru.2 + 21 2484 c.2408C>A c.(2407-2409)ACG>AAG p.T803K C20orf26_uc010zse.1_Missense_Mutation_p.T783K|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.T159K NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 803 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CGGCGGTACACGGGGAAAGTT 0.478 CD93 22918 broad.mit.edu 37 20 23064978 23064978 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr20:23064978C>T uc002wsv.2 - 1 2000 c.1852G>A c.(1852-1854)GAG>AAG p.E618K NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 618 Cytoplasmic (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GGCTTCTTCTCCTTCTTCTCC 0.597 TP53TG5 27296 broad.mit.edu 37 20 44003774 44003774 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr20:44003774C>T uc002xny.2 - 4 754 c.673G>A c.(673-675)GTG>ATG p.V225M SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron NM_014477 NP_055292 Q9Y2B4 T53G5_HUMAN TP53-target gene 5 protein 225 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1) 1 CTGCACATCACCCTGGGCGCC 0.597 PARD6B 84612 broad.mit.edu 37 20 49366625 49366625 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr20:49366625G>A uc002xvo.2 + 3 962 c.719G>A c.(718-720)CGT>CAT p.R240H NM_032521 NP_115910 Q9BYG5 PAR6B_HUMAN PAR-6 beta 240 PDZ.|Interaction with PARD3 and CDC42 (By similarity). axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding kidney(1) 1 GCAAATAGCCGTAACCTCATC 0.423 RAE1 8480 broad.mit.edu 37 20 55942112 55942112 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr20:55942112G>A uc002xyg.2 + 7 852 c.511G>A c.(511-513)GAA>AAA p.E171K RAE1_uc010gis.1_Missense_Mutation_p.E124K|RAE1_uc010git.1_Missense_Mutation_p.E171K|RAE1_uc002xyh.2_Missense_Mutation_p.E171K|RAE1_uc002xyi.2_Missense_Mutation_p.E171K NM_003610 NP_003601 P78406 RAE1L_HUMAN RAE1 (RNA export 1, S.pombe) homolog 171 WD 3. carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding 0 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) GCAACTCCCTGAAAGGTGTTA 0.378 NCAM2 4685 broad.mit.edu 37 21 22881188 22881188 + Silent SNP T T A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr21:22881188T>A uc002yld.1 + 16 2343 c.2094T>A c.(2092-2094)GGT>GGA p.G698G NCAM2_uc011acb.1_Silent_p.G556G NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 698 Helical; (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TGTTTAATGGTCTTGGGCTTG 0.323 RNF160 26046 broad.mit.edu 37 21 30357128 30357128 + Missense_Mutation SNP G G C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr21:30357128G>C uc002ymr.2 - 4 612 c.599C>G c.(598-600)GCT>GGT p.A200G RNF160_uc010gll.1_RNA NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 154 ligase activity|zinc ion binding 0 ATCACACTGAGCCATTAGCCA 0.413 CCT8L2 150160 broad.mit.edu 37 22 17073169 17073169 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr22:17073169C>T uc002zlp.1 - 1 532 c.272G>A c.(271-273)CGG>CAG p.R91Q NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 91 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TCCTGCTTCCCGGAGGAGCCA 0.602 GSTT2 2953 broad.mit.edu 37 22 24323151 24323151 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr22:24323151G>A uc002zzb.3 + 2 200 c.125G>A c.(124-126)AGC>AAC p.S42N DDT_uc002zza.3_5'Flank|GSTT2_uc002zzc.3_Missense_Mutation_p.S42N NM_000854 NP_000845 P0CG30 GSTT2_HUMAN glutathione S-transferase theta 2 42 GST N-terminal. cytoplasm glutathione transferase activity 0 CAGCACAAGAGCAAGGAGTTC 0.552 MEI1 150365 broad.mit.edu 37 22 42191783 42191783 + Silent SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr22:42191783C>A uc003baz.1 + 30 3736 c.3711C>A c.(3709-3711)ACC>ACA p.T1237T WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Silent_p.T623T|MEI1_uc003bbc.1_Silent_p.T605T|MEI1_uc010gym.1_Silent_p.T570T|MEI1_uc003bbd.1_Silent_p.T450T|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc003bbf.2_Silent_p.T251T|MEI1_uc003bbg.2_Silent_p.T207T NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 1237 binding central_nervous_system(1)|skin(1) 2 TGGCCCAGACCCTGCAGGCCT 0.607 RAD18 56852 broad.mit.edu 37 3 8932127 8932127 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr3:8932127G>A uc003brd.2 - 12 1408 c.1331C>T c.(1330-1332)TCA>TTA p.S444L RAD18_uc003bre.2_RNA NM_020165 NP_064550 Q9NS91 RAD18_HUMAN postreplication repair protein hRAD18p 444 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding skin(3)|ovary(2) 5 OV - Ovarian serous cystadenocarcinoma(96;0.0552) TATGATGTCTGAACTGGAACT 0.249 Rad6_pathway SCN5A 6331 broad.mit.edu 37 3 38618180 38618180 + Silent SNP G G C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr3:38618180G>C uc003cio.2 - 19 3677 c.3483C>G c.(3481-3483)GTC>GTG p.V1161V SCN5A_uc003cin.2_Silent_p.V1160V|SCN5A_uc003cil.3_Silent_p.V1161V|SCN5A_uc010hhi.2_Silent_p.V1161V|SCN5A_uc010hhk.2_Silent_p.V1160V|SCN5A_uc011ayr.1_Silent_p.V1107V|SCN5A_uc010hhj.1_Silent_p.V771V NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1161 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTGGGTCCTTGACATCCTGGC 0.617 SCN10A 6336 broad.mit.edu 37 3 38748813 38748813 + Missense_Mutation SNP T T G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr3:38748813T>G uc003ciq.2 - 25 4343 c.4343A>C c.(4342-4344)AAG>ACG p.K1448T NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1448 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGAGCCCAACTTCTTCATGGC 0.532 ULK4 54986 broad.mit.edu 37 3 41954327 41954327 + Nonsense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr3:41954327C>A uc003ckv.3 - 9 1069 c.868G>T c.(868-870)GAA>TAA p.E290* ULK4_uc003ckw.2_Nonsense_Mutation_p.E290*|ULK4_uc003ckx.1_Nonsense_Mutation_p.E290* NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 290 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) ACGCTTGATTCCTGATCTGCT 0.373 GOLGB1 2804 broad.mit.edu 37 3 121388080 121388080 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr3:121388080C>A uc003eei.3 - 18 9411 c.9285G>T c.(9283-9285)AAG>AAT p.K3095N GOLGB1_uc010hrc.2_Missense_Mutation_p.K3100N|GOLGB1_uc003eej.3_Missense_Mutation_p.K3061N NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 3095 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CTTGAACCTGCTTCTCCAAGA 0.473 GOLGB1 2804 broad.mit.edu 37 3 121413488 121413488 + Missense_Mutation SNP G G C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr3:121413488G>C uc003eei.3 - 13 5993 c.5867C>G c.(5866-5868)TCT>TGT p.S1956C GOLGB1_uc010hrc.2_Missense_Mutation_p.S1961C|GOLGB1_uc003eej.3_Missense_Mutation_p.S1922C|GOLGB1_uc011bjm.1_Missense_Mutation_p.S1842C|GOLGB1_uc010hrd.1_Missense_Mutation_p.S1920C NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1956 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CTTCATTTCAGATTCCAATAG 0.358 DNAJB8 165721 broad.mit.edu 37 3 128181963 128181963 + Silent SNP C C T rs140270817 TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr3:128181963C>T uc003ekk.1 - 3 1787 c.126G>A c.(124-126)GCG>GCA p.A42A uc003ekl.1_5'Flank NM_153330 NP_699161 Q8NHS0 DNJB8_HUMAN DnaJ homolog, subfamily B, member 8 42 J. protein folding heat shock protein binding|unfolded protein binding 0 GBM - Glioblastoma multiforme(114;0.177) ACTTCTTCTCCGCCTCCTCCT 0.592 NPHP3 27031 broad.mit.edu 37 3 132416142 132416142 + Nonsense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr3:132416142C>A uc003epe.1 - 14 2127 c.2050G>T c.(2050-2052)GAA>TAA p.E684* NPHP3_uc003epd.1_5'UTR NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 684 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 GAGTGGCATTCTGCAATTATA 0.303 FBXW7 55294 broad.mit.edu 37 4 153250850 153250850 + Missense_Mutation SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr4:153250850T>C uc003ims.2 - 8 1359 c.1210A>G c.(1210-1212)AAA>GAA p.K404E FBXW7_uc011cii.1_Missense_Mutation_p.K404E|FBXW7_uc003imt.2_Missense_Mutation_p.K404E|FBXW7_uc011cih.1_Missense_Mutation_p.K228E|FBXW7_uc003imq.2_Missense_Mutation_p.K324E|FBXW7_uc003imr.2_Missense_Mutation_p.K286E NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 404 WD 1. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GACCAAACTTTTAAAGTGTTG 0.363 Mis|N|D|F colorectal|endometrial|T-ALL ZNF622 90441 broad.mit.edu 37 5 16465699 16465699 + Missense_Mutation SNP C C G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr5:16465699C>G uc003jfq.2 - 1 196 c.76G>C c.(76-78)GAC>CAC p.D26H NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 26 U1-type 1. cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 CGGTGCCAGTCCGTCTTATAG 0.667 CHSY3 337876 broad.mit.edu 37 5 129520330 129520330 + Missense_Mutation SNP G G A rs143055952 byFrequency TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr5:129520330G>A uc003kvd.2 + 3 1495 c.1495G>A c.(1495-1497)GTC>ATC p.V499I NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 499 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 ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) GGATGATACCGTCCTACAGGT 0.493 PCDHB7 56129 broad.mit.edu 37 5 140554431 140554431 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr5:140554431G>A uc003lit.2 + 1 2189 c.2015G>A c.(2014-2016)CGG>CAG p.R672Q PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 672 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTACCTGCGGCTCCCGGAG 0.692 NMUR2 56923 broad.mit.edu 37 5 151775064 151775064 + Missense_Mutation SNP C C G rs4958535 byFrequency TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr5:151775064C>G uc003luv.2 - 3 1059 c.893G>C c.(892-894)AGT>ACT p.S298T NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 298 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity p.S298I(1) ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) CAGGGATTCACTCCACTCCTC 0.463 ADRA1B 147 broad.mit.edu 37 5 159344848 159344848 + Silent SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr5:159344848C>A uc003lxt.1 + 1 1109 c.936C>A c.(934-936)ATC>ATA p.I312I NM_000679 NP_000670 P35368 ADA1B_HUMAN alpha-1B-adrenergic receptor 312 Helical; Name=6; (By similarity). cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity lung(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) CCTTCTTCATCGCTCTACCGC 0.463 PRPF4B 8899 broad.mit.edu 37 6 4032190 4032190 + Nonsense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr6:4032190G>T uc003mvv.2 + 2 530 c.439G>T c.(439-441)GAG>TAG p.E147* PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 147 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity p.F147L(2) breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) CTCTGAAGAAGAGGGGGAAAT 0.403 DSP 1832 broad.mit.edu 37 6 7565711 7565711 + Silent SNP C C T rs121912992 TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr6:7565711C>T uc003mxp.1 + 7 1176 c.897C>T c.(895-897)AGC>AGT p.S299S DSP_uc003mxq.1_Silent_p.S299S NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 299 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. S -> R (in ARVD8). 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) ACGACTGGAGCGACAAGAACA 0.547 HIST1H2AB 8335 broad.mit.edu 37 6 26033708 26033708 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr6:26033708C>T uc003nft.1 - 1 89 c.89G>A c.(88-90)CGA>CAA p.R30Q HIST1H3B_uc003nfs.1_5'Flank NM_003513 NP_003504 P04908 H2A1B_HUMAN histone cluster 1, H2ab 30 nucleosome assembly nucleosome|nucleus DNA binding 0 GCGGTGCACTCGGCCCACAGG 0.617 RGL2 5863 broad.mit.edu 37 6 33260908 33260908 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr6:33260908G>T uc003odv.2 - 16 2025 c.1892C>A c.(1891-1893)GCC>GAC p.A631D RGL2_uc003odu.2_Missense_Mutation_p.A191D|RGL2_uc010jur.2_Missense_Mutation_p.A191D|RGL2_uc003odw.2_Missense_Mutation_p.A549D NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 631 Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 CCCCCCGGAGGCCTCTTCTGC 0.662 KCTD20 222658 broad.mit.edu 37 6 36454780 36454780 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr6:36454780G>A uc003ome.2 + 8 1479 c.1088G>A c.(1087-1089)CGC>CAC p.R363H KCTD20_uc011dtm.1_Missense_Mutation_p.R218H|KCTD20_uc011dtn.1_Missense_Mutation_p.R117H|KCTD20_uc010jwk.2_Missense_Mutation_p.R197H|KCTD20_uc011dto.1_Missense_Mutation_p.R117H NM_173562 NP_775833 Q7Z5Y7 KCD20_HUMAN potassium channel tetramerisation domain 363 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 GGGAAGAGTCGCCATGTGGAT 0.473 USP49 25862 broad.mit.edu 37 6 41774587 41774587 + Silent SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr6:41774587G>A uc003ori.2 - 4 357 c.135C>T c.(133-135)GCC>GCT p.A45A NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 45 UBP-type. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGCGGCCGCAGGCCACGTGGG 0.597 TFAP2D 83741 broad.mit.edu 37 6 50740473 50740473 + Missense_Mutation SNP G G A rs143299031 TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr6:50740473G>A uc003paf.2 + 8 1767 c.1255G>A c.(1255-1257)GGA>AGA p.G419R TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 419 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) CAAGAACGGCGGAGCGGCGGA 0.502 GJB7 375519 broad.mit.edu 37 6 87994325 87994325 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr6:87994325C>A uc003plo.2 - 3 652 c.306G>T c.(304-306)GAG>GAT p.E102D NM_198568 NP_940970 Q6PEY0 CXB7_HUMAN gap junction protein, beta 7, 25kDa 102 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane 0 all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323) BRCA - Breast invasive adenocarcinoma(108;0.0167) TGTGCCTTTTCTCTCTACCCT 0.443 DNAH11 8701 broad.mit.edu 37 7 21621622 21621622 + Silent SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr7:21621622T>C uc003svc.2 + 9 1724 c.1693T>C c.(1693-1695)TTA>CTA p.L565L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 565 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTGCAATGGCTTAGAAGCTGC 0.348 Kartagener_syndrome DNAH11 8701 broad.mit.edu 37 7 21654888 21654888 + Nonsense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr7:21654888C>T uc003svc.2 + 21 4040 c.4009C>T c.(4009-4011)CGA>TGA p.R1337* NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1337 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TATTTATGTTCGAGTAAGATG 0.333 Kartagener_syndrome NCF1 653361 broad.mit.edu 37 7 74193734 74193734 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr7:74193734C>T uc003ubb.2 + 4 431 c.361C>T c.(361-363)CGC>TGC p.R121C NCF1_uc010lbs.1_Missense_Mutation_p.R121C|NCF1_uc011kfh.1_Intron NM_000265 NP_000256 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 121 PX. cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity skin(1) 1 CTTCAAGGTGCGCCCTGATGA 0.448 MUC17 140453 broad.mit.edu 37 7 100680453 100680453 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr7:100680453C>T uc003uxp.1 + 3 5809 c.5756C>T c.(5755-5757)TCA>TTA p.S1919L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1919 Extracellular (Potential).|30.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ATGCCAACCTCAACTCCTAGG 0.498 PPP1R3A 5506 broad.mit.edu 37 7 113519744 113519744 + Missense_Mutation SNP T T G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr7:113519744T>G uc010ljy.1 - 4 1434 c.1403A>C c.(1402-1404)AAA>ACA p.K468T NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 468 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TTCATGTTTTTTATTAAGGTT 0.393 NUP205 23165 broad.mit.edu 37 7 135291543 135291543 + Missense_Mutation SNP A A G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr7:135291543A>G uc003vsw.2 + 21 2981 c.2950A>G c.(2950-2952)AGA>GGA p.R984G NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 984 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 TCATGAAACAAGAATCCACAT 0.363 TTC26 79989 broad.mit.edu 37 7 138824648 138824648 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr7:138824648G>T uc003vus.2 + 4 361 c.247G>T c.(247-249)GCT>TCT p.A83S TTC26_uc003vuq.2_Missense_Mutation_p.A83S|TTC26_uc011kqm.1_Missense_Mutation_p.A83S|TTC26_uc003vur.3_Missense_Mutation_p.A83S|TTC26_uc011kqn.1_Missense_Mutation_p.A83S|TTC26_uc011kqo.1_Missense_Mutation_p.A52S|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.A83S NM_024926 NP_079202 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 isoform 1 83 TPR 1. binding ovary(1) 1 ATACGAAAATGCTACAAAAGA 0.378 KRBA1 84626 broad.mit.edu 37 7 149418620 149418620 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr7:149418620C>T uc003wfz.2 + 5 859 c.460C>T c.(460-462)CCC>TCC p.P154S KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 154 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AAGTCCTCTCCCCATCAGTGA 0.612 CSGALNACT1 55790 broad.mit.edu 37 8 19277976 19277976 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr8:19277976C>T uc011kyn.1 - 7 2071 c.1007G>A c.(1006-1008)CGG>CAG p.R336Q CSGALNACT1_uc011kyo.1_Missense_Mutation_p.R336Q|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.R335Q NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 336 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) TCCCTTTCCCCGAGAAAATTC 0.473 AGPAT6 137964 broad.mit.edu 37 8 41467367 41467367 + Nonsense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr8:41467367G>A uc003xnz.2 + 4 1368 c.429G>A c.(427-429)TGG>TGA p.W143* NM_178819 NP_848934 Q86UL3 GPAT4_HUMAN lysophosphatidic acid acyltransferase zeta 143 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity 0 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) TGGAGTCCTGGAACCTGCTGA 0.488 LRRC67 286187 broad.mit.edu 37 8 67929969 67929969 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr8:67929969G>A uc003xxc.2 - 2 159 c.14C>T c.(13-15)ACC>ATC p.T5I NM_001013626 NP_001013648 Q7Z4L9 LRC67_HUMAN leucine rich repeat containing 67 5 0 TAGATCCAAGGTCAGTCGAAC 0.343 CA2 760 broad.mit.edu 37 8 86386597 86386597 + Silent SNP A A G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr8:86386597A>G uc003ydk.2 + 4 576 c.396A>G c.(394-396)AAA>AAG p.K132K NM_000067 NP_000058 P00918 CAH2_HUMAN carbonic anhydrase II 132 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(1) 1 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) ATTTTGGGAAAGCTGTGCAGC 0.403 KDM4C 23081 broad.mit.edu 37 9 7128217 7128217 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr9:7128217C>T uc003zkh.2 + 19 3342 c.2762C>T c.(2761-2763)ACA>ATA p.T921I KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.T921I|KDM4C_uc011lmk.1_Missense_Mutation_p.T666I|KDM4C_uc011lml.1_Missense_Mutation_p.T608I NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 921 Tudor 1. positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 AGCAGAGACACATTTCCTGAG 0.433 NPR2 4882 broad.mit.edu 37 9 35805937 35805937 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr9:35805937C>T uc003zyd.2 + 14 2158 c.2158C>T c.(2158-2160)CGC>TGC p.R720C NPR2_uc010mlb.2_Missense_Mutation_p.R696C NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 720 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) GATAGCACTTCGCAGTGGTCC 0.552 FLJ46321 389763 broad.mit.edu 37 9 84606105 84606105 + Silent SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr9:84606105C>A uc004amn.2 + 4 767 c.720C>A c.(718-720)CCC>CCA p.P240P NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 240 Pro-rich. integral to membrane 0 ATTCCCCACCCCAACAGCTTC 0.522 C9orf102 375748 broad.mit.edu 37 9 98691121 98691121 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr9:98691121G>A uc004avt.3 + 11 2147 c.1759G>A c.(1759-1761)GTT>ATT p.V587I C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.V289I|C9orf102_uc010mry.1_Missense_Mutation_p.V289I|C9orf102_uc010mrz.2_Missense_Mutation_p.V398I|C9orf102_uc004avu.2_5'UTR NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 587 Helicase C-terminal. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) TACACAAGATGTTAACATTTG 0.308 ZNF462 58499 broad.mit.edu 37 9 109689674 109689674 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr9:109689674G>A uc004bcz.2 + 3 3770 c.3481G>A c.(3481-3483)GAA>AAA p.E1161K ZNF462_uc010mto.2_Missense_Mutation_p.E1009K|ZNF462_uc004bda.2_Missense_Mutation_p.E1009K NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1161 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 GAGAGGGGTCGAAGGGCCCCA 0.552 NELF 26012 broad.mit.edu 37 9 140347581 140347581 + Missense_Mutation SNP A A G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr9:140347581A>G uc004cna.2 - 9 1206 c.974T>C c.(973-975)CTG>CCG p.L325P C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.L122P|NELF_uc010nci.2_Missense_Mutation_p.L69P|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.L302P|NELF_uc004cmz.2_Missense_Mutation_p.L323P|NELF_uc004cnc.2_Missense_Mutation_p.L300P|NELF_uc004cnb.2_Missense_Mutation_p.L295P NM_001130969 NP_001124441 Q6X4W1 NELF_HUMAN nasal embryonic LHRH factor isoform a 325 nucleus|plasma membrane 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888) GTCCCAGTCCAGGTCCTCGAA 0.657 ZNF645 158506 broad.mit.edu 37 X 22291239 22291239 + Missense_Mutation SNP A A C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chrX:22291239A>C uc004dai.1 + 1 180 c.131A>C c.(130-132)AAC>ACC p.N44T NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN zinc finger protein 645 44 intracellular zinc ion binding lung(1)|pancreas(1) 2 ATTAAGATAAACATCATAGGT 0.348 USP9X 8239 broad.mit.edu 37 X 41069826 41069826 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chrX:41069826G>A uc004dfb.2 + 33 5713 c.5080G>A c.(5080-5082)GTG>ATG p.V1694M USP9X_uc004dfc.2_Missense_Mutation_p.V1694M NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1694 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TAATTCATTGGTGGATAGTTT 0.373 TBX22 50945 broad.mit.edu 37 X 79286562 79286562 + Silent SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chrX:79286562C>A uc010nmg.1 + 9 1649 c.1515C>A c.(1513-1515)GGC>GGA p.G505G TBX22_uc004edi.1_Silent_p.G385G|TBX22_uc004edj.1_Silent_p.G505G NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 505 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 TTGGAGAAGGCAAATGTAATC 0.313 PABPC5 140886 broad.mit.edu 37 X 90691445 90691445 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chrX:90691445G>A uc004efg.2 + 2 1309 c.869G>A c.(868-870)CGG>CAG p.R290Q PABPC5_uc004eff.1_Missense_Mutation_p.R126Q NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 290 cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 AGATTTGAACGGCTGAGGTTA 0.443 PRR5L 79899 broad.mit.edu 37 11 36467865 36467865 + Frame_Shift_Del DEL A A - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:36467865delA uc001mwo.3 + 7 849 c.460delA c.(460-462)ATCfs p.I154fs PRR5L_uc001mwp.2_Frame_Shift_Del_p.I154fs|PRR5L_uc009ykk.2_Intron|PRR5L_uc010rfc.1_Frame_Shift_Del_p.I154fs NM_001160167 NP_001153639 Q6MZQ0 PRR5L_HUMAN protor-2 isoform a 154 ovary(1) 1 GGAGCTGACTATCCGCCAGAT 0.597 TMEM132A 54972 broad.mit.edu 37 11 60703766 60703768 + In_Frame_Del DEL AGG AGG - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr11:60703766_60703768delAGG uc001nqj.2 + 11 2652_2654 c.2459_2461delAGG c.(2458-2463)AAGGAG>AAG p.E822del TMEM132A_uc001nqi.2_In_Frame_Del_p.E823del|TMEM132A_uc001nqm.2_In_Frame_Del_p.E32del NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 822 Glu-rich.|Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 GAGGCCAGGAAGGAGGAGACCGA 0.537 LRP1B 53353 broad.mit.edu 37 2 141819648 141819648 + Frame_Shift_Del DEL T T - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:141819648delT uc002tvj.1 - 8 2180 c.1208delA c.(1207-1209)AATfs p.N403fs LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 403 Extracellular (Potential).|LDL-receptor class B 4. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGTGTGTCTATTTTTTCCTTG 0.393 TSP Lung(27;0.18) OR2L8 391190 broad.mit.edu 37 1 248112270 248112285 + Frame_Shift_Del DEL TCTAATTGGAAACCTG TCTAATTGGAAACCTG - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr1:248112269_248112284CTCTAATTGGAAACCTG>C uc001idt.1 + 0 110_125 c.110_125CTCTAATTGGAAACCTG>C c.(109-126)gctctaattggaaacctgfs p.A37fs OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M36I(1) endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTCCTGATGGCTCTAATTGGAAACCTGTCCATGATT 0.403 KBTBD10 10324 broad.mit.edu 37 2 170338792 170338792 + Frame_Shift_Del DEL A A - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr2:170338791_170338791TA>T uc010zdh.1 + 1 148 c.90_90TA>T c.(88-90)cttfs p.L30fs KBTBD10_uc002uet.3_Frame_Shift_Del_p.L30fs|KBTBD10_uc010fpw.3_Frame_Shift_Del_p.L30fs NM_152384 NP_689597 O60662 KBTBA_HUMAN Homo sapiens Bardet-Biedl syndrome 5 (BBS5), mRNA. 0 striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1) 19 GAGAAGTCCTTATTGATTGTT 0.303 SATB1 6304 broad.mit.edu 37 3 18456611 18456611 + Frame_Shift_Del DEL G G - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr3:18456610_18456610AG>A uc003cbh.3 - 4 2367 c.632_632CT>T c.(631-633)cttfs p.L211fs SATB1_uc003cbi.3_Frame_Shift_Del_p.L211fs|SATB1_uc003cbj.3_Frame_Shift_Del_p.L211fs NM_002971 NP_002962 Q01826 SATB1_HUMAN Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA. 211 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter PML body|nuclear matrix double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 TACCTGTGAAAGGGGGCACTC 0.448 AFF1 4299 broad.mit.edu 37 4 88011158 88011169 + In_Frame_Del DEL CTCCTTTGACAG CTCCTTTGACAG - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr4:88011157_88011168CCTCCTTTGACAG>C uc011ccz.2 + 5 1401_1412 c.1126_1137CCTCCTTTGACAG>C c.(1126-1137)cctcctttgaca>C p.PPLT376del AFF1_uc003hqh.2_In_Frame_Del_p.PPLT375del|AFF1_uc011ccy.2_Intron|AFF1_uc003hqj.4_In_Frame_Del_p.PPLT369del|AFF1_uc003hqk.4_In_Frame_Del_p.PPLT369del|AFF1_uc011cda.2_In_Frame_Del_p.PPLT7del NM_001166693 NP_001160165 P51825 AFF1_HUMAN Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA. 369 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TTCATGGCCGCCTCCTTTGACAGCAATACATA 0.377 AKAP11 11215 broad.mit.edu 37 13 42873859 42873860 + Frame_Shift_Ins INS - - A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 g.chr13:42873858_42873859C>CA uc001uys.2 + 7 1151_1152 c.976_977C>CA c.(976-978)caafs p.Q326fs NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA. 326 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AGAGGGATATCAAAAAAGCTTA 0.337