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 MUL1 79594 broad.mit.edu 37 1 20827854 20827854 + Missense_Mutation SNP G G C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr1:20827854G>C uc001bdi.3 - 4 545 c.388C>G c.(388-390)CCC>GCC p.P130A NM_024544 NP_078820 Q969V5 MUL1_HUMAN mitochondrial ubiquitin ligase activator of NFKB 130 Mitochondrial intermembrane (Potential). activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) TCCTCGTGGGGCACCAGGTCA 0.507000 ZCCHC11 23318 broad.mit.edu 37 1 52891085 52891085 + Silent SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr1:52891085C>T uc001ctx.2 - 29 5037 c.4803G>A c.(4801-4803)TTG>TTA p.L1601L ZCCHC11_uc001cty.2_Silent_p.L1602L|ZCCHC11_uc001ctz.2_Silent_p.L1597L NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 1601 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 AGTTTTGATGCAAACCATAAG 0.498000 TCHH 7062 broad.mit.edu 37 1 152080902 152080902 + Silent SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr1:152080902G>A uc001ezp.2 - 2 4791 c.4791C>T c.(4789-4791)TTC>TTT p.F1597F TCHH_uc009wne.1_Silent_p.F1597F NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1597 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTCCTCCATGAATTTTCTCT 0.572000 OR6K6 128371 broad.mit.edu 37 1 158725605 158725605 + Missense_Mutation SNP T T A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr1:158725605T>A uc001fsw.1 + 1 1000 c.1000T>A c.(1000-1002)TAT>AAT p.Y334N NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 334 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) GCTTTTCCACTATCAGAAGAG 0.408000 TOR1AIP1 26092 broad.mit.edu 37 1 179852066 179852066 + Silent SNP T T A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr1:179852066T>A uc001gnq.2 + 1 647 c.429T>A c.(427-429)TCT>TCA p.S143S TOR1AIP1_uc001gnp.1_Silent_p.S143S NM_015602 NP_056417 Q5JTV8 TOIP1_HUMAN lamina-associated polypeptide 1B 143 Nuclear (Potential). integral to membrane|nuclear inner membrane breast(1)|central_nervous_system(1) 2 TACAGCCGTCTCCTGTTATGA 0.592000 DENND1B 163486 broad.mit.edu 37 1 197627492 197627492 + Missense_Mutation SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr1:197627492G>A uc001guf.3 - 6 642 c.304C>T c.(304-306)CCC>TCC p.P102S DENND1B_uc010ppe.1_Missense_Mutation_p.P102S|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.P92S|DENND1B_uc001gug.3_5'UTR NM_144977 NP_659414 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 2 102 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 TCAAACCAGGGAAGGTAACTG 0.244000 PIK3C2B 5287 broad.mit.edu 37 1 204424993 204424993 + Missense_Mutation SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr1:204424993C>G uc001haw.2 - 12 2413 c.1934G>C c.(1933-1935)TGG>TCG p.W645S PIK3C2B_uc010pqv.1_Missense_Mutation_p.W645S|PIK3C2B_uc001hax.1_Missense_Mutation_p.W645S|PIK3C2B_uc009xbd.1_RNA NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 645 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CCTGGTAGCCCAGATGATGGG 0.597000 OBSCN 84033 broad.mit.edu 37 1 228529881 228529881 + Missense_Mutation SNP G G T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr1:228529881G>T uc009xez.1 + 75 18140 c.18096G>T c.(18094-18096)AAG>AAT p.K6032N OBSCN_uc001hsn.2_Missense_Mutation_p.K6032N|OBSCN_uc001hsr.1_Missense_Mutation_p.K661N NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6032 Ig-like 52. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGACAGTCAAGCTGGCCTGCC 0.647000 NUP133 55746 broad.mit.edu 37 1 229601204 229601204 + Silent SNP T T C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr1:229601204T>C uc001htn.2 - 17 2354 c.2262A>G c.(2260-2262)GAA>GAG p.E754E NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 754 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TTTCTAGTGATTCTTCTCTTC 0.323000 NID1 4811 broad.mit.edu 37 1 236208770 236208770 + Missense_Mutation SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr1:236208770C>T uc001hxo.2 - 3 841 c.739G>A c.(739-741)GAA>AAA p.E247K NID1_uc009xgd.2_Missense_Mutation_p.E247K NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 247 NIDO. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCCAAATTTTCAACTGATTCC 0.358000 LIPN 643418 broad.mit.edu 37 10 90522041 90522041 + Nonsense_Mutation SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr10:90522041C>T uc010qmw.1 + 2 205 c.205C>T c.(205-207)CGA>TGA p.R69* NM_001102469 NP_001095939 Q5VXI9 LIPN_HUMAN lipase-like, ab-hydrolase domain containing 4 69 lipid catabolic process extracellular region hydrolase activity 0 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) TCCTTATGGGCGAACACATGC 0.443000 CNNM2 54805 broad.mit.edu 37 10 104816657 104816657 + Missense_Mutation SNP A A C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr10:104816657A>C uc001kwm.2 + 4 2133 c.2009A>C c.(2008-2010)AAA>ACA p.K670T CNNM2_uc001kwn.2_Missense_Mutation_p.K670T NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 670 ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) AAGAACAAGAAAGCCCCCGAA 0.448000 TCERG1L 256536 broad.mit.edu 37 10 132891575 132891575 + Silent SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr10:132891575C>T uc001lkp.2 - 12 1697 c.1611G>A c.(1609-1611)ACG>ACA p.T537T NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 537 FF 2. large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) ACTCCTTAAACGTGGTCCTGA 0.488000 LRP4 4038 broad.mit.edu 37 11 46889557 46889557 + Missense_Mutation SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr11:46889557C>T uc001ndn.3 - 34 5206 c.5060G>A c.(5059-5061)CGC>CAC p.R1687H uc001ndl.2_Intron NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1687 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CAGAGACGTGCGGGTCCGGGT 0.527000 OR4C16 219428 broad.mit.edu 37 11 55339896 55339896 + Missense_Mutation SNP A A G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr11:55339896A>G uc010rih.1 + 1 293 c.293A>G c.(292-294)CAA>CGA p.Q98R NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) TGCATGATCCAAGTCTTTTCA 0.473000 SLC43A3 29015 broad.mit.edu 37 11 57182110 57182110 + Nonsense_Mutation SNP G G C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr11:57182110G>C uc001nkg.2 - 11 1448 c.1038C>G c.(1036-1038)TAC>TAG p.Y346* PRG2_uc001nke.2_Nonsense_Mutation_p.Y245*|SLC43A3_uc001nkh.2_Nonsense_Mutation_p.Y346*|SLC43A3_uc010rjr.1_Nonsense_Mutation_p.Y359*|SLC43A3_uc009yme.2_Nonsense_Mutation_p.Y346*|SLC43A3_uc001nki.2_Nonsense_Mutation_p.Y346*|SLC43A3_uc009ymf.1_Nonsense_Mutation_p.Y346* NM_014096 NP_054815 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 346 transmembrane transport integral to membrane central_nervous_system(1) 1 CTTCCTTCTGGTACTTCTGTT 0.552000 SLC22A9 114571 broad.mit.edu 37 11 63137725 63137725 + Missense_Mutation SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr11:63137725C>T uc001nww.2 + 1 465 c.197C>T c.(196-198)GCC>GTC p.A66V SLC22A9_uc001nwx.2_RNA NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 66 Extracellular (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 GACACTGGGGCCCTCAGCCAA 0.512000 BATF2 116071 broad.mit.edu 37 11 64757201 64757201 + Silent SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr11:64757201C>T uc001ocf.1 - 3 356 c.225G>A c.(223-225)CGG>CGA p.R75R BATF2_uc001oce.1_5'UTR NM_138456 NP_612465 Q8N1L9 BATF2_HUMAN basic leucine zipper transcription factor, 75 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CGTGCAGGGTCCGGCTCCACC 0.657000 PDE2A 5138 broad.mit.edu 37 11 72288594 72288594 + Missense_Mutation SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr11:72288594C>T uc010rrc.1 - 31 2903 c.2660G>A c.(2659-2661)CGC>CAC p.R887H PDE2A_uc001oso.2_Missense_Mutation_p.R866H|PDE2A_uc010rra.1_Missense_Mutation_p.R880H|PDE2A_uc001osn.2_Missense_Mutation_p.R631H|PDE2A_uc010rrb.1_Missense_Mutation_p.R878H|PDE2A_uc010rrd.1_Missense_Mutation_p.R772H NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 887 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GGAGGCCACGCGCTCGTACAG 0.617000 KDM5A 5927 broad.mit.edu 37 12 465688 465688 + Missense_Mutation SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:465688C>G uc001qif.1 - 6 1051 c.688G>C c.(688-690)GTG>CTG p.V230L KDM5A_uc001qie.1_Missense_Mutation_p.V230L|KDM5A_uc010sdn.1_Missense_Mutation_p.V189L|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 230 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 TTTCTACTCACATCTCCAGAT 0.373000 T NUP98 AML CACNA1C 775 broad.mit.edu 37 12 2760857 2760857 + Missense_Mutation SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:2760857G>A uc009zdu.1 + 34 4454 c.4141G>A c.(4141-4143)GTC>ATC p.V1381I CACNA1C_uc009zdv.1_Missense_Mutation_p.V1330I|CACNA1C_uc001qkb.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkc.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qke.2_Missense_Mutation_p.V1322I|CACNA1C_uc001qkf.2_Missense_Mutation_p.V1322I|CACNA1C_uc001qjz.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkd.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkg.2_Missense_Mutation_p.V1320I|CACNA1C_uc009zdw.1_Missense_Mutation_p.V1355I|CACNA1C_uc001qkh.2_Missense_Mutation_p.V1322I|CACNA1C_uc001qkl.2_Missense_Mutation_p.V1381I|CACNA1C_uc001qkn.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qko.2_Missense_Mutation_p.V1353I|CACNA1C_uc001qkp.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkr.2_Missense_Mutation_p.V1350I|CACNA1C_uc001qku.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkq.2_Missense_Mutation_p.V1361I|CACNA1C_uc001qks.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkt.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qki.1_Missense_Mutation_p.V1069I|CACNA1C_uc001qkj.1_Missense_Mutation_p.V1069I|CACNA1C_uc001qkk.1_Missense_Mutation_p.V1069I|CACNA1C_uc001qkm.1_Missense_Mutation_p.V1058I|CACNA1C_uc010sea.1_Missense_Mutation_p.V24I NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1381 Helical; Name=S4 of repeat IV; (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCTGTTCCGGGTCATGCGTCT 0.617000 VWF 7450 broad.mit.edu 37 12 6058252 6058252 + Missense_Mutation SNP C C A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:6058252C>A uc001qnn.1 - 52 8621 c.8371G>T c.(8371-8373)GGC>TGC p.G2791C ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2791 CTCK. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) ACAACAGAGCCATTGGTGCAG 0.582000 KIAA1467 57613 broad.mit.edu 37 12 13219655 13219655 + Missense_Mutation SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:13219655G>A uc001rbi.2 + 6 957 c.934G>A c.(934-936)GGG>AGG p.G312R KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 312 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) CGTTGGAGTTGGGAATCTGAT 0.507000 C12orf40 283461 broad.mit.edu 37 12 40041751 40041751 + Missense_Mutation SNP T T C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:40041751T>C uc001rmc.2 + 6 709 c.542T>C c.(541-543)CTT>CCT p.L181P C12orf40_uc009zjv.1_RNA NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 181 ovary(6) 6 CCTCAGAAACTTGCATATGAA 0.303000 MLL2 8085 broad.mit.edu 37 12 49438225 49438225 + Nonsense_Mutation SNP C C A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:49438225C>A uc001rta.3 - 20 5044 c.5044G>T c.(5044-5046)GAG>TAG p.E1682* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1682 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TTGCTTTCCTCGGTCTCCTCT 0.582000 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KRT82 3888 broad.mit.edu 37 12 52788868 52788868 + Missense_Mutation SNP C C A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:52788868C>A uc001sai.1 - 9 1548 c.1433G>T c.(1432-1434)GGT>GTT p.G478V NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN keratin 82 478 Tail. keratin filament protein binding|structural constituent of epidermis ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.193) ATAGAGTTCACCAGTGCCCAC 0.652000 NCKAP1L 3071 broad.mit.edu 37 12 54893155 54893155 + Missense_Mutation SNP A A T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:54893155A>T uc001sgc.3 + 2 198 c.119A>T c.(118-120)AAA>ATA p.K40I NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_5'UTR NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 40 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 TCAGACCCCAAATCTAAGCCA 0.403000 SMARCC2 6601 broad.mit.edu 37 12 56574790 56574790 + Missense_Mutation SNP T T C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:56574790T>C uc001skb.2 - 11 1158 c.1052A>G c.(1051-1053)AAT>AGT p.N351S SMARCC2_uc001skd.2_Missense_Mutation_p.N351S|SMARCC2_uc001ska.2_Missense_Mutation_p.N351S|SMARCC2_uc001skc.2_Missense_Mutation_p.N351S|SMARCC2_uc010sqf.1_Missense_Mutation_p.N240S NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 351 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) CTCTTCTACATTGGGGACTGG 0.557000 BEST3 144453 broad.mit.edu 37 12 70049272 70049272 + Missense_Mutation SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:70049272C>G uc001svg.2 - 10 1649 c.1422G>C c.(1420-1422)GAG>GAC p.E474D BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.E261D|BEST3_uc010stm.1_Missense_Mutation_p.E368D NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 474 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TCTGGCTGGTCTCCCTGATGG 0.567000 BTBD11 121551 broad.mit.edu 37 12 108012102 108012102 + Missense_Mutation SNP A A T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:108012102A>T uc001tmk.1 + 10 2920 c.2399A>T c.(2398-2400)TAT>TTT p.Y800F BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.Y800F|BTBD11_uc001tml.1_Missense_Mutation_p.Y337F NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 800 integral to membrane DNA binding skin(2)|ovary(1) 3 GAGGCCATGTATCACAGCGCT 0.627000 WDR66 144406 broad.mit.edu 37 12 122441652 122441652 + Silent SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:122441652C>T uc009zxk.2 + 22 3574 c.3432C>T c.(3430-3432)TCC>TCT p.S1144S NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 1144 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CAGAAGATTCCGGCCAGGATG 0.438000 SETDB2 83852 broad.mit.edu 37 13 50057068 50057068 + Missense_Mutation SNP A A G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr13:50057068A>G uc001vcz.2 + 10 2294 c.1388A>G c.(1387-1389)AAG>AGG p.K463R SETDB2_uc001vcy.3_Missense_Mutation_p.K451R|SETDB2_uc010adh.2_Missense_Mutation_p.K451R|SETDB2_uc001vda.2_Missense_Mutation_p.K451R NM_031915 NP_114121 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 isoform a 463 SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) TGTCCACCAAAGTTCAGTAAT 0.358000 C13orf34 79866 broad.mit.edu 37 13 73320199 73320199 + Missense_Mutation SNP G G C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr13:73320199G>C uc001viv.1 + 9 975 c.856G>C c.(856-858)GAG>CAG p.E286Q C13orf34_uc010thq.1_Missense_Mutation_p.E61Q|C13orf34_uc010aen.1_Missense_Mutation_p.E361Q|C13orf34_uc010thr.1_Missense_Mutation_p.E216Q|C13orf34_uc001viw.1_Missense_Mutation_p.E235Q NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 286 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) TCAGATAGGAGAGACTCCACT 0.343000 COL4A1 1282 broad.mit.edu 37 13 110830564 110830564 + Missense_Mutation SNP T T C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr13:110830564T>C uc001vqw.3 - 32 2595 c.2473A>G c.(2473-2475)AAA>GAA p.K825E COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 825 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TTCTCTCCTTTTATTCCAGGA 0.483000 MYH6 4624 broad.mit.edu 37 14 23872600 23872600 + Silent SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr14:23872600G>A uc001wjv.2 - 10 922 c.855C>T c.(853-855)CAC>CAT p.H285H MYH6_uc010akp.1_Silent_p.H285H NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 285 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGTAGAAGATGTGGTAGTTTC 0.577000 TXNDC16 57544 broad.mit.edu 37 14 52949605 52949605 + Missense_Mutation SNP A A G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr14:52949605A>G uc001wzs.2 - 13 1636 c.1187T>C c.(1186-1188)CTA>CCA p.L396P TXNDC16_uc010tqu.1_Missense_Mutation_p.L391P|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 396 Thioredoxin. cell redox homeostasis extracellular region 0 Breast(41;0.0716) TTCTTCTGTTAGTTCCACTGT 0.363000 DAAM1 23002 broad.mit.edu 37 14 59797928 59797928 + Missense_Mutation SNP G G C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr14:59797928G>C uc001xdz.1 + 14 1687 c.1562G>C c.(1561-1563)AGG>ACG p.R521T DAAM1_uc001xea.1_Missense_Mutation_p.R521T NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 521 Potential. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) TCTTTTCAGAGGGCCGTCTGT 0.463000 RTN1 6252 broad.mit.edu 37 14 60072170 60072170 + Silent SNP C C G rs148862799 by1000genomes TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr14:60072170C>G uc001xen.1 - 5 2237 c.2028G>C c.(2026-2028)ACG>ACC p.T676T RTN1_uc001xem.1_Silent_p.T256T|RTN1_uc001xek.1_Silent_p.T108T|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.T93T NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 676 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GCAGGCAGTCCGTGTACTTCT 0.478000 C14orf102 55051 broad.mit.edu 37 14 90770533 90770533 + Missense_Mutation SNP T T C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr14:90770533T>C uc001xyi.1 - 5 782 c.751A>G c.(751-753)ATC>GTC p.I251V C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_Missense_Mutation_p.I20V NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN hypothetical protein LOC55051 isoform 1 251 Potential. protein binding ovary(2)|lung(1) 3 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) ATAAAGGAGATGGGCTCAGAT 0.448000 RYR3 6263 broad.mit.edu 37 15 33999125 33999125 + Silent SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr15:33999125G>A uc001zhi.2 + 43 6559 c.6489G>A c.(6487-6489)GTG>GTA p.V2163V RYR3_uc010bar.2_Silent_p.V2163V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2163 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGCAGGTGGTGACCTACTTGG 0.363000 TGM7 116179 broad.mit.edu 37 15 43577113 43577113 + Silent SNP G G C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr15:43577113G>C uc001zrf.1 - 7 908 c.903C>G c.(901-903)TCC>TCG p.S301S NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 301 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) AACGGAAATTGGAAACAACAC 0.418000 PDXDC1 23042 broad.mit.edu 37 16 15100425 15100425 + Silent SNP A A G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr16:15100425A>G uc002dda.3 + 6 788 c.564A>G c.(562-564)CAA>CAG p.Q188Q PDXDC1_uc010uzl.1_Silent_p.Q173Q|PDXDC1_uc010uzm.1_Silent_p.Q97Q|PDXDC1_uc010bvc.1_Silent_p.Q129Q|PDXDC1_uc002dcz.2_Silent_p.Q188Q|PDXDC1_uc002ddb.3_Silent_p.Q161Q|PDXDC1_uc010uzn.1_Silent_p.Q160Q|PDXDC1_uc002ddc.2_Silent_p.Q188Q NM_015027 NP_055842 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain 188 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) GCCTGGGCCAATACCTTTGTA 0.378000 DNAH3 55567 broad.mit.edu 37 16 20976517 20976517 + Missense_Mutation SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr16:20976517C>T uc010vbe.1 - 53 8689 c.8689G>A c.(8689-8691)GTG>ATG p.V2897M DNAH3_uc010vbd.1_Missense_Mutation_p.V332M NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2897 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ACCTTGGCCACGCGATCGTAC 0.567000 KIFC3 3801 broad.mit.edu 37 16 57795042 57795042 + Silent SNP G G C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr16:57795042G>C uc002emp.2 - 15 2111 c.1914C>G c.(1912-1914)ACC>ACG p.T638T KIFC3_uc010vhw.1_Silent_p.T536T|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Silent_p.T499T|KIFC3_uc010vhx.1_Silent_p.T496T|KIFC3_uc010cdf.2_Silent_p.T499T|KIFC3_uc002emo.3_Silent_p.T499T|KIFC3_uc010vhy.1_Silent_p.T580T|KIFC3_uc002emq.2_Silent_p.T638T|KIFC3_uc010vhz.1_Silent_p.T660T NM_005550 NP_005541 Q9BVG8 KIFC3_HUMAN kinesin family member C3 isoform 1 638 Kinesin-motor. epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens ATP binding|microtubule motor activity central_nervous_system(2)|ovary(1) 3 all_neural(199;0.224) CGTTCAGGTTGGTGAACTCGG 0.627000 ZNRF1 84937 broad.mit.edu 37 16 75033951 75033951 + Missense_Mutation SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr16:75033951C>G uc002fdk.2 + 1 1037 c.382C>G c.(382-384)CTA>GTA p.L128V ZNRF1_uc010vmz.1_Missense_Mutation_p.L128V|ZNRF1_uc002fdl.1_Missense_Mutation_p.L128V|ZNRF1_uc010cgr.1_Missense_Mutation_p.L128V NM_032268 NP_115644 Q8ND25 ZNRF1_HUMAN zinc and ring finger protein 1 128 cell junction|endosome|lysosome|synaptic vesicle membrane ligase activity|protein binding|zinc ion binding 0 GGCGGATGCTCTACCTCTGCA 0.672000 TMEM102 284114 broad.mit.edu 37 17 7340375 7340375 + Silent SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr17:7340375C>T uc002ggx.1 + 3 1350 c.1077C>T c.(1075-1077)TGC>TGT p.C359C FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Silent_p.C359C|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.2_5'Flank|FGF11_uc002ggz.2_5'Flank NM_178518 NP_848613 Q8N9M5 TM102_HUMAN transmembrane protein 102 359 Cytoplasmic (Potential). regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding 0 Prostate(122;0.173) AGCGGCCGTGCGCCTCCGCCT 0.741000 LYZL6 57151 broad.mit.edu 37 17 34261839 34261839 + Silent SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr17:34261839C>T uc002hkj.1 - 4 558 c.408G>A c.(406-408)CGG>CGA p.R136R LYZL6_uc002hkk.1_Silent_p.R136R NM_020426 NP_065159 O75951 LYZL6_HUMAN lysozyme-like 6 precursor 136 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGAAGAGTGGCCGGCCTGAAC 0.532000 TOP2A 7153 broad.mit.edu 37 17 38546403 38546403 + Silent SNP G G C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr17:38546403G>C uc002huq.2 - 34 4407 c.4281C>G c.(4279-4281)ACC>ACG p.T1427T NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 1427 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CGGTAGTGGAGGTGGAAGACT 0.353000 BRCA1 672 broad.mit.edu 37 17 41219625 41219625 + Missense_Mutation SNP C C T rs80187739 TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr17:41219625C>T uc002icq.2 - 16 5306 c.5074G>A c.(5074-5076)GAT>AAT p.D1692N BRCA1_uc010whp.1_Missense_Mutation_p.D541N|BRCA1_uc010whl.1_Missense_Mutation_p.D588N|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.D1621N|BRCA1_uc002icu.2_Missense_Mutation_p.D588N|BRCA1_uc010cyx.2_Missense_Mutation_p.D1645N|BRCA1_uc002ict.2_Missense_Mutation_p.D1713N|BRCA1_uc010whn.1_Missense_Mutation_p.D183N|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.D421N|BRCA1_uc002idc.1_Missense_Mutation_p.D588N|BRCA1_uc010whr.1_Missense_Mutation_p.D542N NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 1692 BRCT 1. D -> N (in ovarian cancer; could be a polymorphism). androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CTTGGTATACCTGTTTTCATA 0.274000 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) ZNF571 51276 broad.mit.edu 37 19 38056612 38056612 + Missense_Mutation SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr19:38056612C>G uc002ogt.2 - 4 819 c.718G>C c.(718-720)GAA>CAA p.E240Q uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.E240Q NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 240 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTCTGATGTTCAGTGAGCTGT 0.348000 THNSL2 55258 broad.mit.edu 37 2 88474331 88474331 + Missense_Mutation SNP A A G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr2:88474331A>G uc002ssz.3 + 3 550 c.397A>G c.(397-399)AAG>GAG p.K133E THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.K133E|THNSL2_uc002ssx.3_Missense_Mutation_p.K101E|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.K133E|THNSL2_uc010fhe.2_5'UTR NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 133 threonine biosynthetic process threonine synthase activity ovary(1) 1 GAAGAGGGAGAAGCACGTCAC 0.507000 RANBP2 5903 broad.mit.edu 37 2 109381382 109381382 + Missense_Mutation SNP G G A rs138483682 TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr2:109381382G>A uc002tem.3 + 20 4513 c.4387G>A c.(4387-4389)GAT>AAT p.D1463N NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1463 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TGGCCAGGGAGATCTTCCTAA 0.393000 EDAR 10913 broad.mit.edu 37 2 109522783 109522783 + Silent SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr2:109522783G>A uc002teq.3 - 11 1436 c.1005C>T c.(1003-1005)AAC>AAT p.N335N EDAR_uc010fjn.2_Silent_p.N367N|EDAR_uc010yws.1_Silent_p.N367N NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor precursor 335 Cytoplasmic (Potential). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity skin(1) 1 CTCCACACACGTTGGCATACA 0.532000 DIS3L2 129563 broad.mit.edu 37 2 233103275 233103275 + Missense_Mutation SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr2:233103275G>A uc010fxz.2 + 11 1513 c.1237G>A c.(1237-1239)GTG>ATG p.V413M DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 413 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) CATTGCTGACGTGAGTTACTT 0.488000 ALPP 250 broad.mit.edu 37 2 233244575 233244575 + Missense_Mutation SNP G G A rs148017705 byFrequency TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr2:233244575G>A uc002vsq.2 + 5 751 c.586G>A c.(586-588)GTG>ATG p.V196M ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 196 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGACGCCGACGTGCCTGCCTC 0.662000 HDAC4 9759 broad.mit.edu 37 2 240033331 240033331 + Silent SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr2:240033331G>A uc002vyk.3 - 14 2646 c.1854C>T c.(1852-1854)CCC>CCT p.P618P HDAC4_uc010fyz.1_Silent_p.P613P|HDAC4_uc010zoa.1_Silent_p.P618P|HDAC4_uc010fza.2_Silent_p.P623P|HDAC4_uc010fyy.2_Silent_p.P575P|HDAC4_uc010znz.1_Silent_p.P501P NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 618 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CGAAGGACACGGGGATGCCGG 0.692000 TGM6 343641 broad.mit.edu 37 20 2413184 2413184 + Silent SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr20:2413184C>T uc002wfy.1 + 13 2077 c.2016C>T c.(2014-2016)ATC>ATT p.I672I TGM6_uc010gal.1_3'UTR NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 672 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) AGTTTGACATCACCCCCTCCA 0.592000 DEFB121 245934 broad.mit.edu 37 20 29992750 29992750 + Missense_Mutation SNP G G T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr20:29992750G>T uc002wvv.1 - 2 233 c.197C>A c.(196-198)ACA>AAA p.T66K NM_001011878 NP_001011878 Q5J5C9 DB121_HUMAN defensin, beta 121 precursor 66 defense response to bacterium extracellular region 0 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GCTTGTATTTGTGTCTGTTAA 0.388000 SAMHD1 25939 broad.mit.edu 37 20 35559253 35559253 + Missense_Mutation SNP C C A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr20:35559253C>A uc002xgh.1 - 5 665 c.535G>T c.(535-537)GTT>TTT p.V179F NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 179 HD. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) AGTGCGTGAACTAGACATCCT 0.448000 TP53TG5 27296 broad.mit.edu 37 20 44005922 44005922 + Missense_Mutation SNP G G T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr20:44005922G>T uc002xny.2 - 3 265 c.184C>A c.(184-186)CTG>ATG p.L62M SYS1-DBNDD2_uc002xnx.2_Intron NM_014477 NP_055292 Q9Y2B4 T53G5_HUMAN TP53-target gene 5 protein 62 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1) 1 AGCTTATGCAGTTCTTGGATC 0.502000 ZNFX1 57169 broad.mit.edu 37 20 47864683 47864683 + Silent SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr20:47864683G>A uc002xui.2 - 14 5125 c.4878C>T c.(4876-4878)ATC>ATT p.I1626I NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1626 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGTTTTTGCGGATGGGCACCT 0.473000 ATP9A 10079 broad.mit.edu 37 20 50307283 50307283 + Missense_Mutation SNP T T A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr20:50307283T>A uc002xwg.1 - 8 718 c.718A>T c.(718-720)ACC>TCC p.T240S ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 240 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 CTTACTCGGGTAAAAGTTCCC 0.463000 ZFP64 55734 broad.mit.edu 37 20 50769930 50769930 + Missense_Mutation SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr20:50769930C>G uc002xwl.2 - 6 1150 c.801G>C c.(799-801)AAG>AAC p.K267N ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.K265N|ZFP64_uc002xwn.2_Missense_Mutation_p.K213N NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 267 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 TGATTTTGAACTTGGCGCTAC 0.567000 ZNF831 128611 broad.mit.edu 37 20 57767635 57767635 + Missense_Mutation SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr20:57767635G>A uc002yan.2 + 1 1561 c.1561G>A c.(1561-1563)GAG>AAG p.E521K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 521 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GGAGCCCAGGGAGCCCCGGGA 0.701000 PTK6 5753 broad.mit.edu 37 20 62165631 62165631 + Missense_Mutation SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr20:62165631C>G uc002yfg.2 - 3 430 c.390G>C c.(388-390)TGG>TGC p.W130C PTK6_uc011aay.1_Missense_Mutation_p.W29C|PTK6_uc011aaz.1_5'Flank|PTK6_uc011aba.1_3'UTR NM_005975 NP_005966 Q13882 PTK6_HUMAN PTK6 protein tyrosine kinase 6 130 SH2. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|kidney(1) 2 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) CGGCACGCCGCCAGATCTTGT 0.697000 KRTAP19-4 337971 broad.mit.edu 37 21 31869360 31869360 + Silent SNP A A G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr21:31869360A>G uc011acz.1 - 1 69 c.69T>C c.(67-69)TAT>TAC p.Y23Y NM_181610 NP_853641 Q3LI73 KR194_HUMAN keratin associated protein 19-4 23 intermediate filament ovary(2) 2 AGCCATAGCCATAGCCTAGGC 0.562000 SCUBE1 80274 broad.mit.edu 37 22 43625083 43625084 + Missense_Mutation DNP CA CA AG TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr22:43625083_43625084CA>AG uc003bdt.1 - 9 1166_1167 c.1078_1079TG>CT c.(1078-1080)TGC>CTC p.C360L NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 360 EGF-like 8; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) CAGACCTCCGCAGTGGGTTGTC 0.688000 OREG0026614 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CERK 64781 broad.mit.edu 37 22 47116006 47116006 + Missense_Mutation SNP A A T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr22:47116006A>T uc003bia.2 - 3 463 c.356T>A c.(355-357)CTG>CAG p.L119Q NM_022766 NP_073603 Q8TCT0 CERK1_HUMAN ceramide kinase 119 Required for binding to sulfatide and phosphoinositides. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding skin(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) CATCTCCCGCAGGGTCTGCAG 0.572000 SLC6A11 6538 broad.mit.edu 37 3 10976881 10976881 + Missense_Mutation SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr3:10976881C>T uc003bvz.2 + 13 1776 c.1742C>T c.(1741-1743)CCC>CTC p.P581L NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter 581 Cytoplasmic (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.229) GGGACACTGCCCGAGGTGAGA 0.652000 HHATL 57467 broad.mit.edu 37 3 42738538 42738538 + Missense_Mutation SNP G G T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr3:42738538G>T uc003clw.2 - 9 1112 c.965C>A c.(964-966)CCC>CAC p.P322H HHATL_uc003clx.2_Missense_Mutation_p.P322H NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 322 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.215) GGGAGGCTGGGGTGGGTCCAG 0.612000 SCAP 22937 broad.mit.edu 37 3 47462450 47462450 + Missense_Mutation SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr3:47462450C>G uc003crh.1 - 11 1570 c.1315G>C c.(1315-1317)GTC>CTC p.V439L SCAP_uc011baz.1_Missense_Mutation_p.V184L|SCAP_uc003crg.2_Missense_Mutation_p.V47L NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 439 SSD.|Helical; Name=6; (Potential). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) ATGGACAGGACAGTGGTGAAA 0.587000 OREG0015548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GOLGB1 2804 broad.mit.edu 37 3 121416746 121416746 + Missense_Mutation SNP T T G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr3:121416746T>G uc003eei.3 - 13 2735 c.2609A>C c.(2608-2610)CAG>CCG p.Q870P GOLGB1_uc010hrc.2_Missense_Mutation_p.Q875P|GOLGB1_uc003eej.3_Missense_Mutation_p.Q836P|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q756P|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q834P NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 870 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) AAGTTCCTTCTGTGAAAGAGC 0.433000 PLOD2 5352 broad.mit.edu 37 3 145838987 145838987 + Missense_Mutation SNP T T A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr3:145838987T>A uc003evs.1 - 3 756 c.250A>T c.(250-252)ATT>TTT p.I84F PLOD2_uc011bnm.1_Missense_Mutation_p.I29F|PLOD2_uc003evr.1_Missense_Mutation_p.I84F NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 84 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) CCCCCTCCAATACTATTAATT 0.378000 C3orf55 152078 broad.mit.edu 37 3 157271104 157271104 + Nonsense_Mutation SNP G G T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr3:157271104G>T uc003fbp.3 + 2 226 c.58G>T c.(58-60)GGA>TGA p.G20* C3orf55_uc011bos.1_RNA|C3orf55_uc003fbo.2_Nonsense_Mutation_p.G20*|C3orf55_uc011bot.1_RNA|C3orf55_uc010hvv.2_Nonsense_Mutation_p.G20* NM_001130002 NP_001123474 A1A4F0 CC055_HUMAN hypothetical protein LOC152078 isoform 1 20 0 Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037) TGATACGTCCGGAGAGCACTT 0.289000 HRG 3273 broad.mit.edu 37 3 186395370 186395370 + Missense_Mutation SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr3:186395370C>T uc003fqq.2 + 7 1299 c.1276C>T c.(1276-1278)CAC>TAC p.H426Y NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 426 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) TAACCAAGGTCACTGTTGCCA 0.408000 TP63 8626 broad.mit.edu 37 3 189584511 189584511 + Silent SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr3:189584511G>A uc003fry.2 + 6 896 c.807G>A c.(805-807)GGG>GGA p.G269G TP63_uc003frx.2_Silent_p.G269G|TP63_uc003frz.2_Silent_p.G269G|TP63_uc010hzc.1_Silent_p.G269G|TP63_uc003fsa.2_Silent_p.G175G|TP63_uc003fsb.2_Silent_p.G175G|TP63_uc003fsc.2_Silent_p.G175G|TP63_uc003fsd.2_Silent_p.G175G|TP63_uc010hzd.1_Silent_p.G90G|TP63_uc003fse.1_Silent_p.G150G NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 269 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G269V(1) skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GAGTAGAGGGGAACAGCCATG 0.408000 Hay-Wells_syndrome HNSCC(45;0.13) GPR78 27201 broad.mit.edu 37 4 8583111 8583111 + Silent SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr4:8583111G>A uc003glk.2 + 1 821 c.402G>A c.(400-402)TCG>TCA p.S134S CPZ_uc003gll.2_RNA NM_080819 NP_543009 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 134 Helical; Name=4; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|ovary(2) 6 GGGGACAGTCGCTGGCCTTCT 0.711000 ATP10D 57205 broad.mit.edu 37 4 47559779 47559779 + Silent SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr4:47559779G>A uc003gxk.1 + 12 2087 c.1923G>A c.(1921-1923)TCG>TCA p.S641S ATP10D_uc003gxl.1_Intron NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 641 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 GTTCTCCATCGCTTAACAGTG 0.478000 ADH1B 125 broad.mit.edu 37 4 100237113 100237113 + Missense_Mutation SNP A A C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr4:100237113A>C uc003hus.3 - 5 593 c.509T>G c.(508-510)GTC>GGC p.V170G ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.V130G|ADH1B_uc011ceh.1_Missense_Mutation_p.V15G|ADH1B_uc011cei.1_Missense_Mutation_p.V130G NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 170 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) AATGAGGCAGACTTTCTCCAG 0.512000 NDUFS6 4726 broad.mit.edu 37 5 1815967 1815967 + Missense_Mutation SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr5:1815967C>G uc003jcy.2 + 4 335 c.312C>G c.(310-312)GAC>GAG p.D104E NM_004553 NP_004544 O75380 NDUS6_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 6, 104 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1) 1 NADH(DB00157) TTTTTCAGGACAAAGAAACAA 0.433000 IRX1 79192 broad.mit.edu 37 5 3600109 3600109 + Silent SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr5:3600109G>A uc003jde.2 + 2 1099 c.1047G>A c.(1045-1047)GGG>GGA p.G349G NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 349 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 cctccgccggggcgccgcTGC 0.498000 SEMA5A 9037 broad.mit.edu 37 5 9063157 9063157 + Missense_Mutation SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr5:9063157C>G uc003jek.2 - 18 3072 c.2360G>C c.(2359-2361)TGG>TCG p.W787S NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 787 TSP type-1 5.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CCAGGCTGACCAAGCCCCGTT 0.572000 CDH12 1010 broad.mit.edu 37 5 21755822 21755822 + Missense_Mutation SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr5:21755822C>G uc010iuc.2 - 11 2221 c.1763G>C c.(1762-1764)CGA>CCA p.R588P CDH12_uc011cno.1_Missense_Mutation_p.R548P|CDH12_uc003jgk.2_Missense_Mutation_p.R588P|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 588 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TCTACAGACTCGAATAGTCAT 0.458000 HNSCC(59;0.17) HEATR7B2 133558 broad.mit.edu 37 5 41047834 41047834 + Missense_Mutation SNP T T C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr5:41047834T>C uc003jmj.3 - 17 2207 c.1717A>G c.(1717-1719)ATG>GTG p.M573V HEATR7B2_uc003jmi.3_Missense_Mutation_p.M128V NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 573 HEAT 7. binding ovary(6)|central_nervous_system(2) 8 TGAAGCAGCATGGTTTCCCAT 0.373000 TRPC7 57113 broad.mit.edu 37 5 135610444 135610444 + Missense_Mutation SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr5:135610444C>T uc003lbn.1 - 3 1045 c.1042G>A c.(1042-1044)GCT>ACT p.A348T TRPC7_uc010jef.1_Intron|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.A279T|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 349 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AATTTCACAGCGATAGACTGT 0.443000 CDHR2 54825 broad.mit.edu 37 5 176022630 176022630 + Missense_Mutation SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr5:176022630G>A uc003mem.1 + 32 3956 c.3890G>A c.(3889-3891)GGG>GAG p.G1297E CDHR2_uc003men.1_Missense_Mutation_p.G1297E NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 1297 Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 CAGCTGGAGGGGCCATCCTAC 0.642000 FLT4 2324 broad.mit.edu 37 5 180057715 180057715 + Silent SNP C C A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr5:180057715C>A uc003mma.3 - 3 319 c.240G>T c.(238-240)GTG>GTT p.V80V FLT4_uc003mlz.3_Silent_p.V80V|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Silent_p.V80V|FLT4_uc011dgz.1_Silent_p.V80V|FLT4_uc011dha.1_Silent_p.V80V NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 80 Ig-like C2-type 1.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) AGTCTCGCACCACCCCCGTGT 0.647000 Congenital_Hereditary_Lymphedema GPR116 221395 broad.mit.edu 37 6 46825952 46825953 + Missense_Mutation DNP GG GG TT TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr6:46825952_46825953GG>TT uc003oyo.3 - 17 3976_3977 c.3687_3688CC>AA c.(3685-3690)GGCCTC>GGAATC p.L1230I GPR116_uc011dwj.1_Missense_Mutation_p.L785I|GPR116_uc011dwk.1_Missense_Mutation_p.L659I|GPR116_uc003oyp.3_Missense_Mutation_p.L1088I|GPR116_uc003oyq.3_Missense_Mutation_p.L1230I|GPR116_uc010jzi.1_Missense_Mutation_p.L902I NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 1230 Helical; Name=6; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) CCCCAAGTGAGGCCCAAGAGTG 0.505000 LATS1 9113 broad.mit.edu 37 6 150004716 150004716 + Silent SNP T T C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr6:150004716T>C uc003qmu.1 - 4 2057 c.1509A>G c.(1507-1509)GTA>GTG p.V503V LATS1_uc010kif.1_Silent_p.V398V|LATS1_uc003qmv.1_Silent_p.V503V|LATS1_uc003qmw.2_Silent_p.V503V|LATS1_uc010kig.1_Silent_p.V398V NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 503 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) CTGGTTTTAATACACGCATAC 0.453000 PKD1L1 168507 broad.mit.edu 37 7 47874786 47874786 + Missense_Mutation SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr7:47874786G>A uc003tny.1 - 38 5999 c.5999C>T c.(5998-6000)ACC>ATC p.T2000I NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2000 Helical; (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AGCCAGGAGGGTACACAGGAG 0.582000 DMTF1 9988 broad.mit.edu 37 7 86824010 86824010 + Missense_Mutation SNP C C A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr7:86824010C>A uc003uih.2 + 17 2365 c.2039C>A c.(2038-2040)TCT>TAT p.S680Y DMTF1_uc003uii.2_Missense_Mutation_p.S414Y|DMTF1_uc003uij.2_Missense_Mutation_p.S414Y|DMTF1_uc011khb.1_Missense_Mutation_p.S592Y|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.S680Y|DMTF1_uc003uin.2_Missense_Mutation_p.S414Y NM_001142327 NP_001135799 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 680 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(14;0.0058) GGTTTAGAGTCTCCCACTATA 0.313000 GCC1 79571 broad.mit.edu 37 7 127222544 127222544 + Missense_Mutation SNP G G A rs34883586 byFrequency TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr7:127222544G>A uc003vma.2 - 2 2270 c.1852C>T c.(1852-1854)CGC>TGC p.R618C NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 618 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 GGACTTCTGCGTCCTGGCAGC 0.607000 ASH2L 9070 broad.mit.edu 37 8 37964667 37964667 + Silent SNP A A T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr8:37964667A>T uc003xkt.3 + 3 442 c.384A>T c.(382-384)ACA>ACT p.T128T ASH2L_uc011lbk.1_Intron|ASH2L_uc003xku.3_Silent_p.T34T|ASH2L_uc010lwa.2_Silent_p.T34T NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN ash2-like isoform a 128 C4-type. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) CGGCTGACACATTTGGCATAG 0.438000 MMP16 4325 broad.mit.edu 37 8 89339413 89339413 + Missense_Mutation SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr8:89339413G>A uc003yeb.3 - 1 305 c.23C>T c.(22-24)ACT>ATT p.T8I MMP16_uc003yec.2_Missense_Mutation_p.T8I NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 8 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 CCGTCTTCCAGTGCTGAATGT 0.393000 PLEC 5339 broad.mit.edu 37 8 145004159 145004159 + Missense_Mutation SNP G G C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr8:145004159G>C uc003zaf.1 - 22 3265 c.3095C>G c.(3094-3096)GCC>GGC p.A1032G PLEC_uc003zab.1_Missense_Mutation_p.A895G|PLEC_uc003zac.1_Missense_Mutation_p.A899G|PLEC_uc003zad.2_Missense_Mutation_p.A895G|PLEC_uc003zae.1_Missense_Mutation_p.A863G|PLEC_uc003zag.1_Missense_Mutation_p.A873G|PLEC_uc003zah.2_Missense_Mutation_p.A881G|PLEC_uc003zaj.2_Missense_Mutation_p.A922G NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1032 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCTCTGCCAGGCCAGAAGGCT 0.692000 SIT1 27240 broad.mit.edu 37 9 35650807 35650807 + Missense_Mutation SNP G G A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr9:35650807G>A uc003zxe.1 - 1 141 c.44C>T c.(43-45)ACT>ATT p.T15I SIT1_uc003zxf.1_RNA NM_014450 NP_055265 Q9Y3P8 SIT1_HUMAN SHP2-interacting transmembrane adaptor protein 15 regulation of T cell activation|signal transduction integral to plasma membrane kinase binding|SH2 domain binding 0 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGATGTGAGAGTCCACAAGCA 0.627000 RGP1 9827 broad.mit.edu 37 9 35751395 35751395 + Missense_Mutation SNP C C A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr9:35751395C>A uc011lpf.1 + 6 761 c.620C>A c.(619-621)TCC>TAC p.S207Y GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.S247Y NM_001080496 NP_001073965 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog 207 ovary(1) 1 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCTGCCACATCCTGCCGCAGC 0.532000 TMEM2 23670 broad.mit.edu 37 9 74340545 74340545 + Silent SNP G G C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr9:74340545G>C uc011lsa.1 - 11 2670 c.2130C>G c.(2128-2130)CTC>CTG p.L710L TMEM2_uc010mos.2_Silent_p.L647L|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 710 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CCAATGGAGTGAGTTCTGGTT 0.378000 GAPVD1 26130 broad.mit.edu 37 9 128094285 128094285 + Missense_Mutation SNP G G C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr9:128094285G>C uc010mwx.2 + 14 2580 c.2254G>C c.(2254-2256)GAT>CAT p.D752H GAPVD1_uc011lzs.1_Missense_Mutation_p.D752H|GAPVD1_uc004bpp.2_Missense_Mutation_p.D752H|GAPVD1_uc004bpq.2_Missense_Mutation_p.D752H|GAPVD1_uc004bpr.2_Missense_Mutation_p.D731H|GAPVD1_uc004bps.2_Missense_Mutation_p.D752H|GAPVD1_uc010mwy.1_Missense_Mutation_p.D611H NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 752 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 TGATGATACGGATGTCAGGGA 0.517000 ZBTB43 23099 broad.mit.edu 37 9 129595849 129595849 + Missense_Mutation SNP T T A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr9:129595849T>A uc004bql.2 + 3 1334 c.1061T>A c.(1060-1062)GTA>GAA p.V354E ZBTB43_uc010mxf.2_Missense_Mutation_p.V354E NM_014007 NP_054726 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATTGAAATGGTAACAGGGATT 0.468000 SLC25A25 114789 broad.mit.edu 37 9 130860953 130860953 + Silent SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr9:130860953C>G uc004bte.2 + 1 137 c.108C>G c.(106-108)CTC>CTG p.L36L SLC25A25_uc004btb.2_Intron|SLC25A25_uc004btc.2_Intron|SLC25A25_uc004btd.2_Intron|SLC25A25_uc004btf.2_5'UTR NM_052901 NP_443133 Q6KCM7 SCMC2_HUMAN solute carrier family 25, member 25 isoform a 36 Mitochondrial intermembrane (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding 0 TTTTCAAGCTCAGTGTCTTCA 0.582000 ZER1 10444 broad.mit.edu 37 9 131515085 131515085 + Missense_Mutation SNP A A G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr9:131515085A>G uc004bwa.1 - 5 1223 c.790T>C c.(790-792)TTC>CTC p.F264L NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 264 LRR 2. ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 GTCAGCTTGAACTTGTAGTAG 0.567000 EGFL7 51162 broad.mit.edu 37 9 139564459 139564459 + Missense_Mutation SNP C C T TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr9:139564459C>T uc004cid.2 + 6 1318 c.407C>T c.(406-408)TCA>TTA p.S136L EGFL7_uc004cif.2_Missense_Mutation_p.S136L|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Missense_Mutation_p.S136L|EGFL7_uc004cie.2_Missense_Mutation_p.S136L|EGFL7_uc004cih.2_Missense_Mutation_p.S136L|MIR126_hsa-mir-126|MI0000471_5'Flank NM_201446 NP_958854 Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 136 angiogenesis|vasculogenesis calcium ion binding ovary(1) 1 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) ACTTGCCAGTCAGGTGAGGCT 0.662000 KDM5C 8242 broad.mit.edu 37 X 53222343 53222343 + Missense_Mutation SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chrX:53222343C>G uc004drz.2 - 26 5022 c.4489G>C c.(4489-4491)GAG>CAG p.E1497Q KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.E1496Q|uc004dsb.1_Intron NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 1497 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 TCCTCCAGCTCTTCCTCCTCC 0.672000 N|F|S clear cell renal carcinoma BRWD3 254065 broad.mit.edu 37 X 79939565 79939565 + Missense_Mutation SNP C C A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chrX:79939565C>A uc004edt.2 - 37 4440 c.4177G>T c.(4177-4179)GAT>TAT p.D1393Y BRWD3_uc010nmi.1_Intron|BRWD3_uc004edo.2_Missense_Mutation_p.D989Y|BRWD3_uc004edp.2_Missense_Mutation_p.D1222Y|BRWD3_uc004edq.2_Missense_Mutation_p.D989Y|BRWD3_uc010nmj.1_Missense_Mutation_p.D989Y|BRWD3_uc004edr.2_Missense_Mutation_p.D1063Y|BRWD3_uc004eds.2_Missense_Mutation_p.D989Y|BRWD3_uc004edu.2_Missense_Mutation_p.D1063Y|BRWD3_uc004edv.2_Missense_Mutation_p.D989Y|BRWD3_uc004edw.2_Missense_Mutation_p.D989Y|BRWD3_uc004edx.2_Missense_Mutation_p.D989Y|BRWD3_uc004edy.2_Missense_Mutation_p.D989Y|BRWD3_uc004edz.2_Missense_Mutation_p.D1063Y|BRWD3_uc004eea.2_Missense_Mutation_p.D1063Y|BRWD3_uc004eeb.2_Missense_Mutation_p.D989Y NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1393 Bromo 2. ovary(4) 4 TGGCGAACATCCTTATAAAAT 0.353000 SEPT6 23157 broad.mit.edu 37 X 118767452 118767452 + Silent SNP T T C TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chrX:118767452T>C uc004erv.2 - 8 1225 c.960A>G c.(958-960)TTA>TTG p.L320L SEPT6_uc010nqk.2_Intron|SEPT6_uc004ers.2_Silent_p.L320L|SEPT6_uc004ert.2_Silent_p.L320L|SEPT6_uc004eru.2_Silent_p.L320L|SEPT6_uc004erw.2_Silent_p.L262L|SEPT6_uc011mtv.1_Silent_p.L262L|SEPT6_uc011mtw.1_Silent_p.L350L NM_015129 NP_055944 Q14141 SEPT6_HUMAN septin 6 isoform B 320 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding lung(1)|ovary(1)|prostate(1)|kidney(1) 4 ATGTCTCCTGTAAACTGCGAA 0.453000 UTP14A 10813 broad.mit.edu 37 X 129042700 129042700 + Silent SNP C C G TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chrX:129042700C>G uc004euz.2 + 4 256 c.228C>G c.(226-228)GTC>GTG p.V76V UTP14A_uc011mup.1_Silent_p.V76V|UTP14A_uc011muq.1_Intron NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 76 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 AGTTCAATGTCAGTTCTGAAG 0.428000 PDZD4 57595 broad.mit.edu 37 X 153070157 153070157 + Missense_Mutation SNP C C A TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chrX:153070157C>A uc004fiz.1 - 8 1211 c.961G>T c.(961-963)GCC>TCC p.A321S PDZD4_uc004fiy.1_Missense_Mutation_p.A246S|PDZD4_uc004fix.2_Missense_Mutation_p.A225S|PDZD4_uc004fja.1_Missense_Mutation_p.A327S|PDZD4_uc011mze.1_Missense_Mutation_p.A212S NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 321 cell cortex breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCTGCAGGGCGTCCCCTTGC 0.677000 SYT10 341359 broad.mit.edu 37 12 33579428 33579431 + Splice_Site DEL TATC TATC - TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:33579428_33579431delTATC uc001rll.1 - 2 449 c.152_splice c.e2-1 p.D51_splice SYT10_uc009zju.1_Splice_Site NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CTGACTGAAATATCTGGAAAAATT 0.338 EPB41L2 2037 broad.mit.edu 37 6 131206403 131206410 + Splice_Site DEL TCGGAGCT TCGGAGCT - rs76682195 byFrequency TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr6:131206403_131206410delTCGGAGCT uc003qch.2 - 12 1843 c.1661_splice c.e12-1 p.A554_splice EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc003qcg.1_Splice_Site_p.A554_splice|EPB41L2_uc011eby.1_Splice_Site_p.A554_splice|EPB41L2_uc003qci.2_Splice_Site_p.A554_splice|EPB41L2_uc010kfk.2_Splice_Site_p.A554_splice|EPB41L2_uc010kfl.1_Splice_Site_p.A554_splice NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) ATGACACCAATCGGAGCTAGTAAAGAGT 0.413 OREG0017660 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SYT10 341359 broad.mit.edu 37 12 33579428 33579431 + Splice_Site DEL TATC TATC - TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr12:33579428_33579431delTATC uc001rll.1 - 2 449 c.152_splice c.e2-1 p.D51_splice SYT10_uc009zju.1_Splice_Site NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CTGACTGAAATATCTGGAAAAATT 0.338 SLC47A2 146802 broad.mit.edu 37 17 19611062 19611062 + Frame_Shift_Del DEL C C - TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr17:19611062delC uc002gwe.3 - 8 1007 c.832delG c.(832-834)GCAfs p.A278fs SLC47A2_uc002gwg.3_Frame_Shift_Del_p.A242fs|SLC47A2_uc002gwf.3_Frame_Shift_Del_p.A242fs|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA NM_152908 NP_690872 Q86VL8 S47A2_HUMAN solute carrier family 47, member 2 isoform 1 278 Cytoplasmic (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) CTCCCACCTGCCCACGTCTCC 0.627 EPB41L2 2037 broad.mit.edu 37 6 131206403 131206410 + Splice_Site DEL TCGGAGCT TCGGAGCT - rs76682195 byFrequency TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr6:131206403_131206410delTCGGAGCT uc003qch.2 - 12 1843 c.1661_splice c.e12-1 p.A554_splice EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc003qcg.1_Splice_Site_p.A554_splice|EPB41L2_uc011eby.1_Splice_Site_p.A554_splice|EPB41L2_uc003qci.2_Splice_Site_p.A554_splice|EPB41L2_uc010kfk.2_Splice_Site_p.A554_splice|EPB41L2_uc010kfl.1_Splice_Site_p.A554_splice NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) ATGACACCAATCGGAGCTAGTAAAGAGT 0.413 OREG0017660 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PDE7A 5150 broad.mit.edu 37 8 66639406 66639415 + Frame_Shift_Del DEL TTGTATAAAG TTGTATAAAG - TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr8:66639406_66639415delTTGTATAAAG uc003xvq.2 - 8 830_839 c.818_827delCTTTATACAA c.(817-828)ACTTTATACAAGfs p.T273fs PDE7A_uc003xvr.2_Frame_Shift_Del_p.T273fs|PDE7A_uc003xvp.2_Frame_Shift_Del_p.T247fs NM_002604 NP_002595 Q13946 PDE7A_HUMAN phosphodiesterase 7A isoform b 273_276 Catalytic (By similarity). cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding 0 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) TGCACTAACCTTGTATAAAGTTGCCAAGTA 0.305 FOXD4L1 200350 broad.mit.edu 37 2 114256849 114256861 + Frame_Shift_Del DEL GCTGAGCGCCCTC GCTGAGCGCCCTC - TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr2:114256848_114256860AGCTGAGCGCCCTC>A uc002tjw.4 + 0 188_200 c.15_27AGCTGAGCGCCCTC>A c.(13-27)agagctgagcgccctfs p.R5fs NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA. 5 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.P9L(4) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 ACCTGCCAAGAGCTGAGCGCCCTCGCTCCACAC 0.638 CNPY4 245812 broad.mit.edu 37 7 99722428 99722436 + In_Frame_Del DEL GAGGAGGAA GAGGAGGAA - rs76794533 TCGA-CG-4443-01A-01D-1158-08 TCGA-CG-4443-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34939d0-6d7c-4fdc-b176-ef85b22f627b 53c153a9-8651-406e-b23b-ec36814e596c g.chr7:99722427_99722435GGAGGAGGAA>G uc003uto.3 + 5 766_774 c.663_671GGAGGAGGAA>G c.(661-672)gaggaggaggaa>gaGa p.221_224EEEE>E MBLAC1_uc003utp.3_5'Flank|MBLAC1_uc022aig.1_5'Flank NM_152755 NP_689968 Q8N129 CNPY4_HUMAN Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA. 221 Glu-rich. extracellular region breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) agcaggaggaggaggaggaagaggaggaa 0.522