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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample PLEKHG5 57449 broad.mit.edu 37 1 6534204 6534204 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:6534204C>G uc001ano.1 - 8 729 c.628G>C c.(628-630)GAG>CAG p.E210Q PLEKHG5_uc001ann.1_Missense_Mutation_p.E191Q|PLEKHG5_uc001anq.1_Missense_Mutation_p.E231Q|PLEKHG5_uc001anp.1_Missense_Mutation_p.E231Q|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E223Q|PLEKHG5_uc001ank.1_Missense_Mutation_p.E154Q|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E154Q|PLEKHG5_uc001anl.1_Missense_Mutation_p.E154Q|PLEKHG5_uc001anm.1_Missense_Mutation_p.E154Q NM_001042663 NP_001036128 O94827 PKHG5_HUMAN pleckstrin homology domain containing family G 210 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) ACCTTGCCCTCATCTCCAGGC 0.677 NaN 0 0 0 0.013537 0 9 35 TARDBP 23435 broad.mit.edu 37 1 11082686 11082686 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:11082686C>G uc001art.2 + 6 1354 c.1220C>G c.(1219-1221)TCT>TGT p.S407C TARDBP_uc010oap.1_Missense_Mutation_p.S291C NM_007375 NP_031401 Q13148 TADBP_HUMAN TAR DNA binding protein 407 Gly-rich. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) AGCATGGATTCTAAGTCTTCT 0.443 NaN 0 0 0 0.007835 0 26 146 DNAJC16 23341 broad.mit.edu 37 1 15871058 15871058 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:15871058C>A uc001aws.2 + 5 859 c.739C>A c.(739-741)CCA>ACA p.P247T DNAJC16_uc001awr.1_Missense_Mutation_p.P247T|DNAJC16_uc001awt.2_5'UTR NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 247 Cytoplasmic (Potential).|Thioredoxin. cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AAGTCTTCTTCCAGGGAACTT 0.423 NaN 1 0 3.7963e-18 0.00333 4.28924e-18 19 89 DNAJC16 23341 broad.mit.edu 37 1 15890809 15890809 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:15890809C>G uc001aws.2 + 11 1673 c.1553C>G c.(1552-1554)TCT>TGT p.S518C DNAJC16_uc001awr.1_Missense_Mutation_p.S518C|DNAJC16_uc001awt.2_Missense_Mutation_p.S206C|DNAJC16_uc001awu.2_RNA NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 518 Cytoplasmic (Potential). cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TACTCTGCTTCTGACTACATC 0.433 NaN 0 0 0 0.004289 0 28 130 KDM1A 23028 broad.mit.edu 37 1 23395118 23395118 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:23395118C>T uc001bgi.2 + 9 1343 c.1194C>T c.(1192-1194)TTC>TTT p.F398F KDM1A_uc001bgj.2_Silent_p.F422F NM_015013 NP_055828 O60341 KDM1A_HUMAN lysine-specific histone demethylase 1 isoform b 398 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 AACTAGACTTCAATGTCCTCA 0.398 NaN 0 0 0 0.007413 0 18 28 GJB3 2707 broad.mit.edu 37 1 35250591 35250591 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:35250591C>T uc001bxx.2 + 2 843 c.228C>T c.(226-228)CTC>CTT p.L76L GJB3_uc001bxy.2_Silent_p.L76L|GJB3_uc001bxz.3_Silent_p.L76L|uc010ohs.1_RNA NM_024009 NP_076872 O75712 CXB3_HUMAN connexin 31 76 Helical; (Potential). cell communication connexon complex|integral to membrane gap junction channel activity 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) ACATCCGCCTCTGGGCCCTGC 0.622 NaN 0 0 0 0.010729 0 12 22 ZMYM4 9202 broad.mit.edu 37 1 35885249 35885249 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:35885249G>C uc001byt.2 + 30 4698 c.4618G>C c.(4618-4620)GAA>CAA p.E1540Q ZMYM4_uc009vuu.2_Missense_Mutation_p.E1508Q|ZMYM4_uc001byu.2_Missense_Mutation_p.E1216Q|ZMYM4_uc009vuv.2_Missense_Mutation_p.E1279Q NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 1540 multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGCCAAATCTGAAGACTCTGA 0.423 NaN 0 0 0 0.001855 0 12 32 MTF1 4520 broad.mit.edu 37 1 38304297 38304297 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:38304297C>T uc001cce.1 - 4 920 c.779G>A c.(778-780)CGG>CAG p.R260Q MTF1_uc009vvj.1_5'UTR NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 260 C2H2-type 5. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TAAGACCTACCGAAATGGCTT 0.403 NaN 0 0 0 0.00245 0 11 62 CAP1 10487 broad.mit.edu 37 1 40529930 40529930 + Nonsense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:40529930C>G uc001cfa.3 + 5 555 c.326C>G c.(325-327)TCA>TGA p.S109* CAP1_uc001cey.3_Nonsense_Mutation_p.S109*|CAP1_uc001cez.3_Nonsense_Mutation_p.S109*|CAP1_uc009vvz.2_Nonsense_Mutation_p.S109*|CAP1_uc010oje.1_Intron NM_006367 NP_006358 Q01518 CAP1_HUMAN adenylyl cyclase-associated protein 109 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding ovary(1) 1 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCACCCATCTCAGAGCAGATC 0.448 NaN 0 0 0 0.003954 0 21 66 TSPAN1 10103 broad.mit.edu 37 1 46651197 46651197 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:46651197C>G uc001cpd.2 + 9 1182 c.718C>G c.(718-720)CTA>GTA p.L240V TSPAN1_uc009vyd.1_Missense_Mutation_p.L240V NM_005727 NP_005718 O60635 TSN1_HUMAN tetraspan 1 240 Cytoplasmic (Potential). integral to membrane|lysosomal membrane ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Medulloblastoma(700;0.00498)|all_neural(321;0.0212) GTACTGCAATCTACAATAAGT 0.542 NaN 0 0 0 0.01441 0 46 236 CC2D1B 200014 broad.mit.edu 37 1 52824767 52824767 + Missense_Mutation SNP C C G rs144724390 byFrequency TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:52824767C>G uc001ctq.1 - 11 1327 c.1189G>C c.(1189-1191)GAG>CAG p.E397Q CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Missense_Mutation_p.E88Q NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 397 ovary(2) 2 ATGCCCGCCTCGCGGTACTTG 0.632 NaN 0 0 0 0.006214 0 8 37 CC2D1B 200014 broad.mit.edu 37 1 52825538 52825538 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:52825538C>G uc001ctq.1 - 8 919 c.781G>C c.(781-783)GAG>CAG p.E261Q CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_5'UTR NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 261 Pro-rich. ovary(2) 2 AGGCTGGTCTCAGGTTGGGAG 0.572 NaN 0 0 0 0.009096 0 3 19 AK3L1 205 broad.mit.edu 37 1 65684501 65684501 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:65684501C>G uc001dby.2 + 4 577 c.330C>G c.(328-330)ATC>ATG p.I110M AK3L1_uc009wan.2_Missense_Mutation_p.I58M|AK3L1_uc001dbz.2_Missense_Mutation_p.I110M|AK3L1_uc001dca.2_Missense_Mutation_p.I110M NM_203464 NP_982289 P27144 KAD4_HUMAN adenylate kinase 3-like 1 isoform 7 110 mitochondrial matrix adenylate kinase activity|ATP binding|GTP binding 0 ATCTAGTGATCAGTTTGAATA 0.433 NaN 0 0 0 0.004482 0 5 47 C1orf173 127254 broad.mit.edu 37 1 75065450 75065450 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:75065450G>A uc001dgg.2 - 11 1874 c.1655C>T c.(1654-1656)CCA>CTA p.P552L uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.P346L NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 552 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 ACGGGCATCTGGTGCCTTCTG 0.408 NaN 0 0 0 0.009718 0 43 102 ZZZ3 26009 broad.mit.edu 37 1 78034131 78034131 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:78034131G>C uc001dhq.2 - 13 2828 c.2352C>G c.(2350-2352)ATC>ATG p.I784M ZZZ3_uc001dhr.2_Missense_Mutation_p.I290M|ZZZ3_uc001dhp.2_Missense_Mutation_p.I783M NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 784 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 TCCTATACATGATAGGAATAC 0.269 NaN 0 0 0 0.010729 0 12 11 USP33 23032 broad.mit.edu 37 1 78187599 78187599 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:78187599G>A uc001dht.2 - 15 2014 c.1667C>T c.(1666-1668)TCA>TTA p.S556L USP33_uc001dhs.2_Missense_Mutation_p.S277L|USP33_uc001dhu.2_Missense_Mutation_p.S525L|USP33_uc001dhv.2_Missense_Mutation_p.S361L|USP33_uc001dhw.2_Intron NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 556 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 AGGGACACATGAGACAACAAA 0.373 NaN 0 0 0 0.003163 0 14 29 LPAR3 23566 broad.mit.edu 37 1 85279670 85279670 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:85279670C>G uc001dkl.2 - 2 960 c.921G>C c.(919-921)ATG>ATC p.M307I LPAR3_uc009wcj.1_Missense_Mutation_p.M307I NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 307 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 AGCAGCAGATCATCTTCTTCA 0.547 NaN 0 0 0 0.007413 0 16 64 SH3GLB1 51100 broad.mit.edu 37 1 87208005 87208005 + Silent SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:87208005C>A uc001dlw.2 + 8 1202 c.876C>A c.(874-876)ATC>ATA p.I292I SH3GLB1_uc001dlx.2_Silent_p.I313I|SH3GLB1_uc001dly.2_Silent_p.I321I|SH3GLB1_uc001dlz.2_Silent_p.I192I NM_016009 NP_057093 Q9Y371 SHLB1_HUMAN SH3-containing protein SH3GLB1 292 anti-apoptosis|filopodium assembly|signal transduction Golgi membrane|mitochondrial outer membrane cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding 0 Lung NSC(277;0.209) all cancers(265;0.0136)|Epithelial(280;0.0414) GCCTAGTAATCACCTCTCCTT 0.438 NaN 1 0 1.30015e-28 0.004878 1.51295e-28 36 47 LRRC8D 55144 broad.mit.edu 37 1 90400866 90400866 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:90400866G>C uc001dnm.2 + 3 2664 c.2239G>C c.(2239-2241)GAA>CAA p.E747Q LRRC8D_uc001dnn.2_Missense_Mutation_p.E747Q NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 747 LRR 10. integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GATTCCAATAGAAATAGGATT 0.373 NaN 0 0 0 0.007413 0 19 73 BARHL2 343472 broad.mit.edu 37 1 91182500 91182500 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:91182500G>A uc001dns.2 - 1 295 c.253C>T c.(253-255)CAT>TAT p.H85Y NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 85 nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) AGGTGGTGATGATGCTGGGTC 0.473 NaN 0 0 0 0.008291 0 10 16 GCLM 2730 broad.mit.edu 37 1 94360257 94360257 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:94360257G>A uc001dqg.1 - 6 861 c.568C>T c.(568-570)CTT>TTT p.L190F NM_002061 NP_002052 P48507 GSH0_HUMAN glutamate-cysteine ligase regulatory protein 190 glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process cytosol|soluble fraction glutamate-cysteine ligase catalytic subunit binding ovary(1) 1 all_lung(203;0.000815)|Lung NSC(277;0.00363) all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) CAGGAGGCAAGATTAACTTGG 0.323 NaN 0 0 0 0.01441 0 51 87 CSDE1 7812 broad.mit.edu 37 1 115262243 115262243 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:115262243G>A uc001efk.2 - 18 2639 c.2173C>T c.(2173-2175)CAG>TAG p.Q725* NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_Nonsense_Mutation_p.Q771*|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Nonsense_Mutation_p.Q694*|CSDE1_uc001efm.2_Nonsense_Mutation_p.Q740*|CSDE1_uc009wgv.2_Nonsense_Mutation_p.Q725*|CSDE1_uc001efn.2_Nonsense_Mutation_p.Q694* NM_001007553 NP_001007554 O75534 CSDE1_HUMAN upstream of NRAS isoform 1 725 CSD 9. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding ovary(1) 1 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAGTGCGCTGATTAAGAATC 0.448 NaN 0 0 0 0.005443 0 24 101 NBPF10 100132406 broad.mit.edu 37 1 145301812 145301812 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:145301812G>A uc001end.3 + 7 1116 c.1081G>A c.(1081-1083)GAG>AAG p.E361K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.E361K|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.E90K NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 361 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAAGCAAGCTGAGGAGCTCAG 0.522 NaN 0 0 0 0.003954 0 9 179 FMO5 2330 broad.mit.edu 37 1 146672879 146672879 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:146672879G>C uc001epi.2 - 7 1427 c.1038C>G c.(1036-1038)GTC>GTG p.V346V FMO5_uc001eph.3_Silent_p.V346V|FMO5_uc001epj.2_Intron NM_001461 NP_001452 P49326 FMO5_HUMAN flavin containing monooxygenase 5 isoform 1 346 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding ovary(3) 3 all_hematologic(923;0.0487) TCTTGTTTTTGACCACTTTGA 0.443 NaN 0 0 0 0.001984 0 6 68 BCL9 607 broad.mit.edu 37 1 147092562 147092562 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:147092562G>A uc001epq.2 + 8 3341 c.2601G>A c.(2599-2601)ACG>ACA p.T867T BCL9_uc010ozr.1_Silent_p.T793T NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 867 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) AGTCTCCCACGATGCACCAAG 0.637 NaN T IGH@|IGL@ B-ALL 0 0 0 0.003954 0 23 97 HORMAD1 84072 broad.mit.edu 37 1 150687152 150687152 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:150687152G>A uc001evk.1 - 4 287 c.181C>T c.(181-183)CTT>TTT p.L61F HORMAD1_uc001evl.1_Missense_Mutation_p.L61F|HORMAD1_uc001evm.1_Intron NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 61 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TTGACACAAAGATCTAAACAC 0.174 NaN 0 0 0 0.007413 0 14 59 SETDB1 9869 broad.mit.edu 37 1 150923439 150923439 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:150923439G>C uc001evu.2 + 13 2276 c.2086G>C c.(2086-2088)GAG>CAG p.E696Q SETDB1_uc009wmf.2_Missense_Mutation_p.E697Q|SETDB1_uc001evv.2_Missense_Mutation_p.E696Q|SETDB1_uc009wmg.1_Missense_Mutation_p.E696Q NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 696 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGTGTCAATGAGATTGACAC 0.468 NaN 0 0 0 0.00333 0 16 75 PRUNE 58497 broad.mit.edu 37 1 151001306 151001306 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:151001306C>G uc001ewh.1 + 7 955 c.819C>G c.(817-819)TTC>TTG p.F273L PRUNE_uc001ewi.1_Missense_Mutation_p.F91L|PRUNE_uc010pco.1_Missense_Mutation_p.F41L|PRUNE_uc001ewj.1_Intron|PRUNE_uc001ewk.1_Intron NM_021222 NP_067045 Q86TP1 PRUNE_HUMAN prune 273 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCCATGCTTTCTGCCAGGCTC 0.478 NaN 0 0 0 0.010504 0 16 109 TCHH 7062 broad.mit.edu 37 1 152081239 152081239 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:152081239C>G uc001ezp.2 - 2 4454 c.4454G>C c.(4453-4455)AGA>ACA p.R1485T TCHH_uc009wne.1_Missense_Mutation_p.R1485T NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1485 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) CAGGAATTTTCTGTCACGCTC 0.552 NaN 0 0 0 0.01441 0 44 147 INTS3 65123 broad.mit.edu 37 1 153713793 153713793 + Silent SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:153713793C>A uc009wom.2 + 4 488 c.267C>A c.(265-267)ATC>ATA p.I89I INTS3_uc001fct.2_Silent_p.I89I|INTS3_uc001fcu.2_Translation_Start_Site|INTS3_uc001fcv.2_Translation_Start_Site NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 89 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ATGAAGAAATCTGCCTGGGCC 0.493 NaN 1 0 5.35047e-06 0.00333 5.57022e-06 18 169 KCNN3 3782 broad.mit.edu 37 1 154841844 154841844 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:154841844G>C uc001ffp.2 - 1 911 c.597C>G c.(595-597)ATC>ATG p.I199M KCNN3_uc009wox.1_Missense_Mutation_p.I199M NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 204 integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TCTCGGCCTCGATGAGGTTCC 0.637 NaN 0 0 0 0.004482 0 7 61 PAQR6 79957 broad.mit.edu 37 1 156215947 156215947 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:156215947G>A uc001fnu.1 - 3 216 c.146C>T c.(145-147)ACG>ATG p.T49M PAQR6_uc010phf.1_Translation_Start_Site|PAQR6_uc001fny.1_Translation_Start_Site|PAQR6_uc001fnv.1_Missense_Mutation_p.T25M|PAQR6_uc010phg.1_Missense_Mutation_p.T46M|PAQR6_uc001fnx.1_Translation_Start_Site|PAQR6_uc001fnw.1_Translation_Start_Site|PAQR6_uc001fnz.1_Translation_Start_Site|PAQR6_uc010phh.1_Missense_Mutation_p.T49M|PAQR6_uc001foa.1_Translation_Start_Site|PAQR6_uc001fob.1_RNA NM_198406 NP_940798 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 49 Cytoplasmic (Potential). integral to membrane receptor activity 0 Hepatocellular(266;0.158) GATGTTGACCGTCTCGTTGGT 0.647 NaN 0 0 0 0.004656 0 23 43 SMG5 23381 broad.mit.edu 37 1 156237348 156237348 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:156237348C>G uc001foc.3 - 10 1179 c.1030G>C c.(1030-1032)GAG>CAG p.E344Q SMG5_uc009wrv.2_5'Flank NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 344 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) TATCCACTCTCATACTCCTCC 0.527 NaN 0 0 0 0.010729 0 9 91 C1orf61 10485 broad.mit.edu 37 1 156386657 156386657 + Splice_Site SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:156386657C>G uc001fou.1 - 3 93 c.-24_splice c.e3-1 C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron|C1orf61_uc001foy.1_Intron NM_006365 NP_006356 Q13536 CROC4_HUMAN transcriptional activator of the c-fos promoter nucleus skin(1) 1 Hepatocellular(266;0.158) TTTTTACATTCTGAAACAAAT 0.388 NaN 0 0 0 0.00245 0 13 35 BCAN 63827 broad.mit.edu 37 1 156617355 156617355 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:156617355G>A uc001fpp.2 + 4 858 c.522G>A c.(520-522)GGG>GGA p.G174G BCAN_uc001fpo.2_Silent_p.G174G NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 174 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTTTTCTGGGGCCCAGGAGG 0.642 NaN 0 0 0 0.004007 0 13 35 NES 10763 broad.mit.edu 37 1 156640696 156640696 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:156640696G>A uc001fpq.2 - 4 3417 c.3284C>T c.(3283-3285)GCG>GTG p.A1095V NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1095 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTCAGCTCCCGCAGCAGACTC 0.662 NaN 0 0 0 0.00499 0 17 44 OR6K6 128371 broad.mit.edu 37 1 158724899 158724899 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:158724899G>A uc001fsw.1 + 1 294 c.294G>A c.(292-294)GAG>GAA p.E98E NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 98 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) CCTTCCTGGAGATCTGCTATA 0.483 NaN 0 0 0 0.01441 0 58 177 ATP1A2 477 broad.mit.edu 37 1 160098495 160098495 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:160098495G>A uc001fvc.2 + 9 1203 c.1071G>A c.(1069-1071)AAG>AAA p.K357K ATP1A2_uc001fvb.2_Silent_p.K357K|ATP1A2_uc010piz.1_Silent_p.K202K|ATP1A2_uc001fvd.2_Silent_p.K93K|ATP1A2_uc009wtg.1_Silent_p.K45K NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 357 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCCTGGTGAAGAACCTGGAGG 0.592 NaN 0 0 0 0.003755 0 29 97 RXRG 6258 broad.mit.edu 37 1 165370572 165370572 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:165370572G>C uc001gda.2 - 10 1620 c.1320C>G c.(1318-1320)TTC>TTG p.F440L NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 440 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) CGATGAGCTTGAAGAAGAAGA 0.597 NaN 0 0 0 0.01441 0 49 98 DPT 1805 broad.mit.edu 37 1 168665804 168665804 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:168665804C>T uc001gfp.2 - 4 605 c.589G>A c.(589-591)GAA>AAA p.E197K NM_001937 NP_001928 Q07507 DERM_HUMAN dermatopontin precursor 197 cell adhesion extracellular space|proteinaceous extracellular matrix ovary(1) 1 all_hematologic(923;0.208) TTTGCAAATTCACAGTCGTAT 0.473 NaN 0 0 0 0.008291 0 9 61 KIFAP3 22920 broad.mit.edu 37 1 169930298 169930298 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:169930298C>G uc001ggv.2 - 18 2333 c.2062G>C c.(2062-2064)GAG>CAG p.E688Q KIFAP3_uc010plx.1_Missense_Mutation_p.E390Q NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 688 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGACGACTCTCTACCATCTCC 0.408 NaN 0 0 0 0.01441 0 63 83 PRRX1 5396 broad.mit.edu 37 1 170633362 170633362 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:170633362G>A uc001ghf.2 + 1 50 c.3G>A c.(1-3)ATG>ATA p.M1I PRRX1_uc001ghe.2_Missense_Mutation_p.M1I NM_022716 NP_073207 P54821 PRRX1_HUMAN paired mesoderm homeobox 1 isoform pmx-1b 1 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGGAGACCATGACCTCCAGCT 0.657 NaN 0 0 0 0.009096 0 4 13 LHX4 89884 broad.mit.edu 37 1 180241097 180241097 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:180241097C>G uc001goe.1 + 5 957 c.734C>G c.(733-735)TCT>TGT p.S245C uc001gof.1_RNA NM_033343 NP_203129 Q969G2 LHX4_HUMAN LIM homeobox protein 4 245 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 AAGGAGAGCTCTGCAGAGGAC 0.617 NaN 0 0 0 0.001984 0 5 44 FAM5C 339479 broad.mit.edu 37 1 190195374 190195374 + Missense_Mutation SNP A A T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:190195374A>T uc001gse.1 - 6 1031 c.799T>A c.(799-801)TCA>ACA p.S267T FAM5C_uc010pot.1_Missense_Mutation_p.S165T NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 267 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TCTCCCTCTGAATTGCAAGCA 0.438 NaN 0 0 0 0.00333 0 19 60 ADIPOR1 51094 broad.mit.edu 37 1 202920093 202920093 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:202920093C>G uc001gyq.3 - 2 373 c.106G>C c.(106-108)GAG>CAG p.E36Q ADIPOR1_uc010pqd.1_5'Flank|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Missense_Mutation_p.E36Q NM_015999 NP_057083 Q96A54 ADR1_HUMAN adiponectin receptor 1 36 Cytoplasmic (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity 0 BRCA - Breast invasive adenocarcinoma(75;0.141) TTGCCCTTCTCTTCTAGCAGG 0.527 NaN 0 0 0 0.006122 0 16 148 CHIT1 1118 broad.mit.edu 37 1 203192738 203192738 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:203192738G>C uc001gzn.2 - 5 461 c.365C>G c.(364-366)TCG>TGG p.S122W FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.S113W NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 122 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 CCTGATGGCCGAGTTGACAAA 0.577 NaN 0 0 0 0.005443 0 22 180 ATP2B4 493 broad.mit.edu 37 1 203680026 203680026 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:203680026G>A uc001gzw.2 + 12 2705 c.1821G>A c.(1819-1821)CGG>CGA p.R607R ATP2B4_uc001gzv.2_Silent_p.R607R|ATP2B4_uc009xaq.2_Silent_p.R607R NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 607 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCCTGGACCGGAAAGGGGAAG 0.502 NaN 0 0 0 0.003163 0 15 24 REN 5972 broad.mit.edu 37 1 204135397 204135397 + Missense_Mutation SNP G G A rs115181548 by1000genomes TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:204135397G>A uc001haq.2 - 1 69 c.25C>T c.(25-27)CGC>TGC p.R9C NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 9 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) AGTCCCCAGCGAGGCATCCTT 0.557 NaN 0 0 0 0.003163 0 13 78 SLC26A9 115019 broad.mit.edu 37 1 205896660 205896660 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:205896660G>C uc001hdq.2 - 10 1289 c.1175C>G c.(1174-1176)TCT>TGT p.S392C SLC26A9_uc001hdo.2_Missense_Mutation_p.S60C|SLC26A9_uc001hdp.2_Missense_Mutation_p.S392C NM_052934 NP_443166 Q7LBE3 S26A9_HUMAN solute carrier family 26, member 9 isoform a 392 Helical; (Potential). integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity ovary(1)|skin(1) 2 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CAGAGTGACAGAAAGCGCACA 0.517 NaN 0 0 0 0.010729 0 11 45 C1orf107 27042 broad.mit.edu 37 1 210014333 210014333 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:210014333C>G uc001hhr.1 + 8 1494 c.1418C>G c.(1417-1419)TCT>TGT p.S473C C1orf107_uc009xcu.1_Missense_Mutation_p.S188C NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 473 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) GACTTTCTGTCTTCTATCGAG 0.483 NaN 0 0 0 0.004656 0 24 96 INTS7 25896 broad.mit.edu 37 1 212190334 212190334 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:212190334C>T uc001hiw.1 - 4 508 c.403G>A c.(403-405)GAG>AAG p.E135K INTS7_uc009xdb.1_Missense_Mutation_p.E135K|INTS7_uc001hix.1_Missense_Mutation_p.E11K|INTS7_uc001hiy.1_Missense_Mutation_p.E135K|INTS7_uc010pta.1_Missense_Mutation_p.E86K NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 135 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) TTCTTCCTCTCAGGAATTATT 0.398 NaN 0 0 0 0.013114 0 32 123 CENPF 1063 broad.mit.edu 37 1 214815002 214815002 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:214815002G>A uc001hkm.2 + 12 3495 c.3321G>A c.(3319-3321)CAG>CAA p.Q1107Q NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 1107 Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AGACAGTGCAGCAAGCTCTGA 0.373 NaN 0 0 0 0.000602 0 3 115 TP53BP2 7159 broad.mit.edu 37 1 223983678 223983678 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:223983678C>T uc010pvb.1 - 13 2855 c.2563G>A c.(2563-2565)GAA>AAA p.E855K TP53BP2_uc001hod.2_Missense_Mutation_p.E726K|TP53BP2_uc010puz.1_Missense_Mutation_p.E88K|TP53BP2_uc010pva.1_Missense_Mutation_p.E494K NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 849 Pro-rich. apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) TTTGGTTCTTCTGGGTTATTC 0.547 NaN 0 0 0 0.007413 0 15 89 RYR2 6262 broad.mit.edu 37 1 237806646 237806646 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:237806646G>C uc001hyl.1 + 48 7361 c.7241G>C c.(7240-7242)GGA>GCA p.G2414A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2414 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCGGGAAGGGAGAAGCCATC 0.413 NaN 0 0 0 0.01441 0 37 139 OR2L13 284521 broad.mit.edu 37 1 248263467 248263467 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:248263467C>T uc001ids.2 + 3 1127 c.790C>T c.(790-792)CTC>TTC p.L264F NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GCCCAGGAATCTCCGCTCACC 0.468 NaN 0 0 0 0.011902 0 37 88 ZNF672 79894 broad.mit.edu 37 1 249142668 249142668 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:249142668G>C uc001iex.2 + 4 1890 c.1195G>C c.(1195-1197)GAG>CAG p.E399Q NM_024836 NP_079112 Q499Z4 ZN672_HUMAN zinc finger protein 672 399 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GGAGTGCGCAGAGTGCGGCAA 0.682 NaN 0 0 0 0.001168 0 6 10 ANKRD16 54522 broad.mit.edu 37 10 5925115 5925115 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:5925115C>T uc010qat.1 - 5 1246 c.703G>A c.(703-705)GAA>AAA p.E235K ANKRD16_uc009xie.2_Missense_Mutation_p.E235K|ANKRD16_uc009xif.2_Missense_Mutation_p.E235K|ANKRD16_uc001iiq.2_Missense_Mutation_p.E235K NM_019046 NP_061919 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 isoform a 235 0 AGGCTGTCTTCTGCTGAAAGG 0.542 NaN 0 0 0 0.006214 0 6 31 FBXO18 84893 broad.mit.edu 37 10 5945065 5945065 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:5945065C>A uc001iis.2 + 2 179 c.84C>A c.(82-84)TTC>TTA p.F28L FBXO18_uc001iir.2_5'UTR|FBXO18_uc009xig.2_5'UTR|FBXO18_uc001iit.2_Missense_Mutation_p.F79L NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 28 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 CCCAGCCCTTCGGTCAAAGAT 0.488 NaN 1 0 1.99505e-19 0.012213 2.28062e-19 26 40 TRDMT1 1787 broad.mit.edu 37 10 17195630 17195630 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:17195630C>G uc001iop.2 - 10 999 c.951G>C c.(949-951)GAG>GAC p.E317D TRDMT1_uc001ioq.2_Missense_Mutation_p.E293D|TRDMT1_uc001ior.2_Missense_Mutation_p.E271D|TRDMT1_uc001ios.2_Missense_Mutation_p.E246D|TRDMT1_uc009xjt.2_Missense_Mutation_p.E236D|TRDMT1_uc010qcc.1_Missense_Mutation_p.E246D|TRDMT1_uc010qcd.1_Missense_Mutation_p.E194D NM_004412 NP_004403 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 isoform 317 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding ovary(1) 1 TGTAGATATTCTCAACCTGTA 0.333 NaN 0 0 0 0.001168 0 4 18 MLLT10 8028 broad.mit.edu 37 10 21962735 21962735 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:21962735C>G uc001iqs.2 + 11 1856 c.1508C>G c.(1507-1509)TCT>TGT p.S503C MLLT10_uc001iqt.2_Missense_Mutation_p.S503C|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S503C|MLLT10_uc001ira.2_Translation_Start_Site|MLLT10_uc001irb.2_RNA|MLLT10_uc001iqz.2_Missense_Mutation_p.S258C NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 503 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 CCAACATCATCTGTAGCATCA 0.433 NaN T MLL|PICALM|CDK6 AL 0 0 0 0.008361 0 27 76 RBP3 5949 broad.mit.edu 37 10 48389845 48389845 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:48389845C>T uc001jez.2 - 1 1147 c.1033G>A c.(1033-1035)GAC>AAC p.D345N NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 345 4 X approximate tandem repeats.|2. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GGCACACGGTCCACCAGCGTG 0.637 NaN 0 0 0 0.010729 0 11 53 OGDHL 55753 broad.mit.edu 37 10 50966537 50966537 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:50966537G>A uc001jie.2 - 2 244 c.102C>T c.(100-102)TCC>TCT p.S34S OGDHL_uc009xog.2_Silent_p.S61S|OGDHL_uc010qgt.1_Silent_p.S34S|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_Intron NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 34 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 CCGGTGGCCCGGAGGACCTGC 0.632 NaN 0 0 0 0.007413 0 17 27 LRRTM3 347731 broad.mit.edu 37 10 68687370 68687370 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:68687370G>A uc001jmz.1 + 2 1246 c.696G>A c.(694-696)CAG>CAA p.Q232Q CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.Q232Q NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 232 Extracellular (Potential).|LRR 8. integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 TCAGCCTTCAGAACCTTTACT 0.453 NaN 0 0 0 0.003271 0 31 69 KIAA1274 27143 broad.mit.edu 37 10 72324122 72324122 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:72324122G>A uc001jrd.3 + 19 2546 c.2265G>A c.(2263-2265)GCG>GCA p.A755A KIAA1274_uc001jre.3_Silent_p.A46A NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 755 ovary(2)|central_nervous_system(1) 3 TCCTCCAGGCGAAGGCAGCGA 0.617 NaN 0 0 0 0.004878 0 30 56 SLC29A3 55315 broad.mit.edu 37 10 73111520 73111520 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:73111520G>C uc001jrr.3 + 4 642 c.585G>C c.(583-585)ATG>ATC p.M195I SLC29A3_uc001jrs.3_Missense_Mutation_p.M195I|SLC29A3_uc010qjq.1_Missense_Mutation_p.M49I|SLC29A3_uc001jrt.3_Intron|SLC29A3_uc001jru.3_Missense_Mutation_p.M7I NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN solute carrier family 29 (nucleoside 195 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity 0 CCTTTCCTATGAGGAACTCCC 0.577 NaN 0 0 0 0.00245 0 10 17 CDH23 64072 broad.mit.edu 37 10 73464806 73464806 + Missense_Mutation SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:73464806A>G uc001jrx.3 + 24 3249 c.2872A>G c.(2872-2874)ATC>GTC p.I958V CDH23_uc001jry.2_Missense_Mutation_p.I574V|CDH23_uc001jrz.2_Missense_Mutation_p.I574V NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 958 Cadherin 9.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CCGCGAGCGCATCGCGGAGTA 0.677 NaN 0 0 0 0.014323 0 18 41 HPSE2 60495 broad.mit.edu 37 10 100249921 100249921 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:100249921C>G uc001kpn.1 - 10 1413 c.1353G>C c.(1351-1353)CTG>CTC p.L451L HPSE2_uc009xwc.1_Silent_p.L441L|HPSE2_uc001kpo.1_Silent_p.L383L|HPSE2_uc009xwd.1_Silent_p.L329L NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 451 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TGGGGCCGATCAGGCGCTTGT 0.552 NaN 0 0 0 0.01441 0 42 67 MGEA5 10724 broad.mit.edu 37 10 103567511 103567511 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:103567511C>T uc001ktv.2 - 5 1071 c.628G>A c.(628-630)GAA>AAA p.E210K MGEA5_uc010qqe.1_Missense_Mutation_p.E210K|MGEA5_uc009xws.2_Missense_Mutation_p.E210K|MGEA5_uc001ktw.2_Missense_Mutation_p.E210K|MGEA5_uc009xwt.2_Missense_Mutation_p.E68K|MGEA5_uc010qqf.1_RNA NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 210 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) AGGAAAGTTTCTGGCTCTCCT 0.393 NaN 0 0 0 0.012319 0 18 114 PPRC1 23082 broad.mit.edu 37 10 103906708 103906708 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:103906708G>C uc001kum.2 + 9 3998 c.3959G>C c.(3958-3960)CGA>CCA p.R1320P PPRC1_uc001kun.2_Missense_Mutation_p.R1200P|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GTGGGCTCCCGATGGAATGTC 0.607 NaN 0 0 0 0.010729 0 11 42 PPRC1 23082 broad.mit.edu 37 10 103908426 103908426 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:103908426G>C uc001kum.2 + 11 4631 c.4592G>C c.(4591-4593)AGA>ACA p.R1531T PPRC1_uc001kun.2_Missense_Mutation_p.R1409T|PPRC1_uc010qqj.1_Missense_Mutation_p.R1267T|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1531 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CAAAGGCAAAGAGTGCTACAA 0.493 NaN 0 0 0 0.01441 0 41 104 PPRC1 23082 broad.mit.edu 37 10 103909067 103909067 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:103909067G>C uc001kum.2 + 13 4911 c.4872G>C c.(4870-4872)AAG>AAC p.K1624N PPRC1_uc001kun.2_Missense_Mutation_p.K1502N|PPRC1_uc010qqj.1_Missense_Mutation_p.K1360N|PPRC1_uc009xxa.2_RNA|NOLC1_uc001kuo.2_5'Flank|NOLC1_uc001kup.2_5'Flank|NOLC1_uc001kuq.2_5'Flank|NOLC1_uc009xxb.1_5'Flank|NOLC1_uc001kur.2_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1624 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) AGTTCTGCAAGAGGAGCTATT 0.557 NaN 0 0 0 0.008361 0 28 65 CALHM2 51063 broad.mit.edu 37 10 105207266 105207266 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:105207266G>C uc001kwz.2 - 3 1001 c.615C>G c.(613-615)CTC>CTG p.L205L CALHM2_uc001kxa.2_Silent_p.L205L|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Silent_p.L205L NM_015916 NP_057000 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 205 Helical; (Potential). integral to membrane skin(1) 1 AGTAATGCTTGAGGCACTTGG 0.617 NaN 0 0 0 0.009096 0 3 38 COL17A1 1308 broad.mit.edu 37 10 105819447 105819447 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:105819447C>G uc001kxr.2 - 15 1340 c.1171G>C c.(1171-1173)GAA>CAA p.E391Q COL17A1_uc010qqv.1_Missense_Mutation_p.E375Q NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 391 Cytoplasmic (Potential).|Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GCTTGCTTTTCTTTTTTTAGG 0.438 NaN 0 0 0 0.014323 0 19 38 SORCS3 22986 broad.mit.edu 37 10 107007054 107007054 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:107007054G>C uc001kyi.1 + 22 3297 c.3070G>C c.(3070-3072)GAT>CAT p.D1024H SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 1024 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GTGGAGAAAAGATATTGGCAA 0.383 NaN 0 0 0 0.009535 0 24 46 FOXI2 399823 broad.mit.edu 37 10 129537070 129537070 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:129537070G>A uc009yas.2 + 2 798 c.798G>A c.(796-798)CTG>CTA p.L266L uc009yar.1_5'Flank NM_207426 NP_997309 Q6ZQN5 FOXI2_HUMAN forkhead box I2 266 epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity 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 0 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) CCGGGGGCCTGGCGGGCGACT 0.701 NaN 0 0 0 0.001168 0 4 3 INPP5A 3632 broad.mit.edu 37 10 134459392 134459392 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:134459392G>A uc001llp.2 + 3 386 c.138G>A c.(136-138)CCG>CCA p.P46P INPP5A_uc001llo.1_Silent_p.P46P|INPP5A_uc001llq.2_5'UTR NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 46 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CACACAAGCCGCACTTCATGG 0.612 NaN 0 0 0 0.007291 0 20 34 MUC6 4588 broad.mit.edu 37 11 1028937 1028937 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:1028937C>T uc001lsw.2 - 12 1456 c.1405G>A c.(1405-1407)GAG>AAG p.E469K NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 469 VWFD 2. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTGACCACCTCGTCCTGAGAG 0.627 NaN 0 0 0 0.013114 0 33 49 HIPK3 10114 broad.mit.edu 37 11 33370177 33370177 + Nonsense_Mutation SNP C C T rs150770633 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:33370177C>T uc001mul.1 + 13 2749 c.2479C>T c.(2479-2481)CAG>TAG p.Q827* HIPK3_uc001mum.1_Nonsense_Mutation_p.Q806*|HIPK3_uc009yjv.1_Nonsense_Mutation_p.Q806* NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 827 Interaction with FAS (By similarity).|Interaction with AR (By similarity). anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 ACAGGACAATCAGAACTCAGA 0.378 NaN 0 0 0 0.00623 0 36 42 OR5M8 219484 broad.mit.edu 37 11 56258214 56258214 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:56258214G>A uc001nix.1 - 1 633 c.633C>T c.(631-633)TTC>TTT p.F211F NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) TACATATGATGAAGAGAGAAA 0.433 NaN 0 0 0 0.004482 0 8 69 GLYATL1 92292 broad.mit.edu 37 11 58711103 58711103 + Translation_Start_Site SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:58711103G>A uc001nnf.2 + 3 298 c.-78G>A c.(-80--76)TTGTG>TTATG uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.V38M|GLYATL1_uc001nni.1_Translation_Start_Site|GLYATL1_uc001nnj.1_Translation_Start_Site Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) ggatccaattgtgtccattga 0 NaN 0 0 0 0.010729 0 9 56 TCN1 6947 broad.mit.edu 37 11 59623355 59623355 + Missense_Mutation SNP G G C rs146250932 byFrequency TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:59623355G>C uc001noj.2 - 6 1022 c.924C>G c.(922-924)TGC>TGG p.C308W NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 308 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGCAGAGACGCAAGAAGAGT 0.443 NaN 0 0 0 0.004656 0 20 66 EML3 256364 broad.mit.edu 37 11 62378418 62378418 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:62378418G>A uc001ntu.1 - 4 807 c.499C>T c.(499-501)CGG>TGG p.R167W EML3_uc001ntr.1_Missense_Mutation_p.R139W|EML3_uc001nts.1_Missense_Mutation_p.R139W|EML3_uc001ntt.1_Missense_Mutation_p.R51W|EML3_uc010rly.1_Missense_Mutation_p.R167W|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank NM_153265 NP_694997 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 167 cytoplasm|microtubule protein binding ovary(1) 1 AGCTTCTGCCGAGGCCGCTCT 0.612 NaN 0 0 0 0.003163 0 12 74 GANAB 23193 broad.mit.edu 37 11 62398090 62398090 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:62398090C>G uc001nub.2 - 11 1402 c.1369G>C c.(1369-1371)GCT>CCT p.A457P GANAB_uc001nua.2_Missense_Mutation_p.A479P|GANAB_uc001nuc.2_Missense_Mutation_p.A360P|GANAB_uc010rma.1_Missense_Mutation_p.A365P|GANAB_uc010rmb.1_Missense_Mutation_p.A343P NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 457 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 CTCTTAGAAGCCAAGCGCTCA 0.537 NaN 0 0 0 0.009096 0 4 45 GANAB 23193 broad.mit.edu 37 11 62398117 62398117 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:62398117G>A uc001nub.2 - 11 1375 c.1342C>T c.(1342-1344)CAG>TAG p.Q448* GANAB_uc001nua.2_Nonsense_Mutation_p.Q470*|GANAB_uc001nuc.2_Nonsense_Mutation_p.Q351*|GANAB_uc010rma.1_Nonsense_Mutation_p.Q356*|GANAB_uc010rmb.1_Nonsense_Mutation_p.Q334* NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 448 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 GTGCGGGGCTGAGGGAAGCGA 0.547 NaN 0 0 0 0.001855 0 11 58 INTS5 80789 broad.mit.edu 37 11 62416959 62416959 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:62416959G>A uc001nud.2 - 2 646 c.593C>T c.(592-594)TCG>TTG p.S198L GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 198 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 AATGAGAGCCGAGAGGCACTG 0.532 NaN 0 0 0 0.003755 0 31 102 CDCA5 113130 broad.mit.edu 37 11 64846584 64846584 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:64846584C>G uc001ocp.2 - 6 919 c.754G>C c.(754-756)GAA>CAA p.E252Q NM_080668 NP_542399 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 252 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding 0 GCATCTCATTCAACCAGGAGA 0.572 NaN 0 0 0 0.010504 0 14 29 SLC22A20 440044 broad.mit.edu 37 11 64981715 64981715 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:64981715C>G uc010roc.1 + 1 369 c.366C>G c.(364-366)ATC>ATG p.I122M SLC22A20_uc010rob.1_Missense_Mutation_p.I122M NM_001004326 NP_001004326 A6NK97 S22AK_HUMAN solute carrier family 22, member 20 122 Extracellular (Potential). ion transport integral to membrane transmembrane transporter activity central_nervous_system(1) 1 CGTCCACCATCGTGATGGAGG 0.657 NaN 0 0 0 0.009096 0 4 12 SF3B2 10992 broad.mit.edu 37 11 65824372 65824372 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65824372C>T uc001ogy.1 + 6 653 c.613C>T c.(613-615)CGG>TGG p.R205W SF3B2_uc001ogx.1_Missense_Mutation_p.R204W NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 205 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 CCCAGTCCCTCGGCCCCCACA 0.587 NaN 0 0 0 0.012319 0 17 66 CLCF1 23529 broad.mit.edu 37 11 67134963 67134963 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:67134963C>G uc001okq.2 - 2 347 c.151G>C c.(151-153)GAG>CAG p.E51Q LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Missense_Mutation_p.E41Q NM_013246 NP_037378 Q9UBD9 CLCF1_HUMAN cardiotrophin-like cytokine factor 1 precursor 51 B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity 0 BRCA - Breast invasive adenocarcinoma(15;2.39e-06) AGTTGGTGCTCCAGGTAGCGG 0.602 NaN 0 0 0 0.00874 0 37 97 SHANK2 22941 broad.mit.edu 37 11 70332669 70332669 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:70332669G>A uc001oqc.2 - 21 3807 c.3729C>T c.(3727-3729)CTC>CTT p.L1243L SHANK2_uc010rqn.1_Silent_p.L655L|SHANK2_uc001opz.2_Silent_p.L648L|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 864 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GAGGTTTGTTGAGGTCGGCCT 0.632 NaN 0 0 0 0.008291 0 8 97 ARAP1 116985 broad.mit.edu 37 11 72437906 72437906 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:72437906G>A uc001osu.2 - 3 457 c.268C>T c.(268-270)CGC>TGC p.R90C ARAP1_uc001osv.2_Missense_Mutation_p.R90C NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 90 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 GGTGGTGAGCGGAAGATGTGG 0.726 NaN 0 0 0 0.009096 0 3 14 C2CD3 26005 broad.mit.edu 37 11 73814626 73814626 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:73814626G>C uc001ouu.2 - 14 2357 c.2130C>G c.(2128-2130)ATC>ATG p.I710M NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 710 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) ACTTAGTATTGATACCAGTGA 0.373 NaN 0 0 0 0.004656 0 26 47 SERPINH1 871 broad.mit.edu 37 11 75282943 75282943 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:75282943G>C uc001owr.2 + 5 1301 c.1072G>C c.(1072-1074)GAG>CAG p.E358Q SERPINH1_uc009yug.2_Missense_Mutation_p.E358Q|SERPINH1_uc001ows.2_Missense_Mutation_p.E358Q|SERPINH1_uc001owt.2_Missense_Mutation_p.E141Q NM_001235 NP_001226 P50454 SERPH_HUMAN serine (or cysteine) proteinase inhibitor, clade 358 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity ovary(2) 2 Ovarian(111;0.11) CACCGCCTTTGAGTTGGACAC 0.597 NaN 0 0 0 0.014323 0 17 27 GDPD4 220032 broad.mit.edu 37 11 76980082 76980082 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:76980082G>A uc001oyf.2 - 8 762 c.511C>T c.(511-513)CTT>TTT p.L171F NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 171 Helical; (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 AAAAGGATAAGAAGAAAGGGT 0.438 NaN 0 0 0 0.00308 0 7 38 NARS2 79731 broad.mit.edu 37 11 78239958 78239958 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:78239958C>T uc001ozi.2 - 6 995 c.619G>A c.(619-621)GAG>AAG p.E207K NARS2_uc010rsq.1_5'UTR NM_024678 NP_078954 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial 207 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding ovary(2) 2 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) AAATTCTCCTCAGGTACCTTA 0.353 NaN 0 0 0 0.006999 0 35 75 EED 8726 broad.mit.edu 37 11 85961447 85961447 + Nonsense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:85961447C>G uc001pbp.2 + 2 681 c.224C>G c.(223-225)TCA>TGA p.S75* EED_uc010rtm.1_Nonsense_Mutation_p.S75*|EED_uc001pbq.2_Nonsense_Mutation_p.S75*|EED_uc001pbr.2_Nonsense_Mutation_p.S75*|EED_uc001pbs.2_Nonsense_Mutation_p.S75* NM_003797 NP_003788 O75530 EED_HUMAN embryonic ectoderm development isoform a 75 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding skin(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) AAATGGAAGTCAAAGAAATGC 0.388 NaN 0 0 0 0.013726 0 31 72 NAALAD2 10003 broad.mit.edu 37 11 89896561 89896561 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:89896561G>A uc001pdf.3 + 10 1268 c.1159G>A c.(1159-1161)GAA>AAA p.E387K NAALAD2_uc009yvx.2_Missense_Mutation_p.E354K|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.E294K NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 387 Extracellular (Potential).|NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TGTTTTGCAAGAAATTGCCCG 0.398 NaN 0 0 0 0.01441 0 52 101 PIWIL4 143689 broad.mit.edu 37 11 94316613 94316613 + Splice_Site SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:94316613G>A uc001pfa.2 + 5 725 c.514_splice c.e5-1 p.V172_splice PIWIL4_uc010rue.1_Splice_Site|PIWIL4_uc009ywk.1_Splice_Site NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CTTTTTCCCAGGTCACAGAGT 0.418 NaN 0 0 0 0.01441 0 71 165 CASP5 838 broad.mit.edu 37 11 104871143 104871143 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:104871143G>A uc010rva.1 - 6 829 c.797C>T c.(796-798)TCT>TTT p.S266F CASP5_uc010ruz.1_Missense_Mutation_p.S279F|CASP5_uc010rvb.1_Missense_Mutation_p.S208F|CASP5_uc010rvc.1_Missense_Mutation_p.S124F|CASP5_uc009yxh.2_Missense_Mutation_p.S48F|CASP5_uc010rvd.1_Missense_Mutation_p.S48F NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 266 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) GATGCCATGAGACATGAGTAC 0.463 NaN 0 0 0 0.005443 0 23 70 SLC35F2 54733 broad.mit.edu 37 11 107673745 107673745 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:107673745G>C uc001pjq.2 - 7 1342 c.921C>G c.(919-921)CTC>CTG p.L307L SLC35F2_uc010rvu.1_Silent_p.L159L NM_017515 NP_059985 Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 307 Helical; (Potential). transport integral to membrane central_nervous_system(1) 1 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) CAAACAGAAAGAGTCCAACAA 0.428 NaN 0 0 0 0.010504 0 18 42 NPAT 4863 broad.mit.edu 37 11 108044182 108044182 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:108044182G>C uc001pjz.3 - 13 1631 c.1529C>G c.(1528-1530)ACT>AGT p.T510S NPAT_uc001pka.2_Missense_Mutation_p.T305S NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 510 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) AACAAATGAAGTTATTGGTAT 0.363 NaN 0 0 0 0.01441 0 43 91 SIK2 23235 broad.mit.edu 37 11 111594445 111594445 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:111594445C>G uc001plt.2 + 15 2491 c.2373C>G c.(2371-2373)CTC>CTG p.L791L NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 791 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 GCCCTTTCCTCAGCCAGTACC 0.632 NaN 0 0 0 0.01441 0 136 297 DSCAML1 57453 broad.mit.edu 37 11 117302289 117302289 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:117302289C>G uc001prh.1 - 31 5517 c.5515G>C c.(5515-5517)GAG>CAG p.E1839Q NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1779 Cytoplasmic (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTGTCACTCTCAGTGACCGTG 0.632 NaN 0 0 0 0.014323 0 21 59 MPZL2 10205 broad.mit.edu 37 11 118128003 118128003 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:118128003C>G uc001psn.2 - 5 751 c.610G>C c.(610-612)GAG>CAG p.E204Q MPZL2_uc001pso.2_Missense_Mutation_p.E204Q NM_005797 NP_005788 O60487 MPZL2_HUMAN myelin protein zero-like 2 precursor 204 Cytoplasmic (Potential). anatomical structure morphogenesis|homophilic cell adhesion cytoskeleton|integral to membrane skin(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) ACCTTTTTCTCTTGGTTGAGC 0.388 NaN 0 0 0 0.001855 0 12 84 CBL 867 broad.mit.edu 37 11 119167741 119167741 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:119167741C>T uc001pwe.2 + 13 2288 c.2150C>T c.(2149-2151)TCA>TTA p.S717L NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 717 Interaction with CD2AP.|Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCAGAGTTCACGGTAGGTT 0.507 NaN CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 0 0 0 0.01441 0 40 71 NFRKB 4798 broad.mit.edu 37 11 129762708 129762708 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:129762708C>G uc001qfi.2 - 3 238 c.37G>C c.(37-39)GAA>CAA p.E13Q NFRKB_uc001qfg.2_Missense_Mutation_p.E26Q|NFRKB_uc001qfh.2_Missense_Mutation_p.E36Q|NFRKB_uc010sbw.1_Missense_Mutation_p.E13Q NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 13 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GGACCAAGTTCCAGAGGATCT 0.517 NaN 0 0 0 0.012213 0 29 136 B4GALNT3 283358 broad.mit.edu 37 12 660168 660168 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:660168C>T uc001qii.1 + 11 1078 c.1078C>T c.(1078-1080)CCT>TCT p.P360S B4GALNT3_uc001qij.1_Missense_Mutation_p.P262S|B4GALNT3_uc001qik.1_5'Flank NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 360 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GGATGGGCTTCCTCTGCAGCG 0.607 NaN 0 0 0 0.005524 0 31 69 DCP1B 196513 broad.mit.edu 37 12 2061674 2061674 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:2061674G>A uc001qjx.1 - 7 1512 c.1432C>T c.(1432-1434)CCT>TCT p.P478S DCP1B_uc010sdy.1_Missense_Mutation_p.P376S NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 478 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) GCGAGCACAGGAAACTTAGCG 0.512 NaN 0 0 0 0.00499 0 17 35 LRP6 4040 broad.mit.edu 37 12 12318175 12318175 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:12318175G>T uc001rah.3 - 8 1742 c.1600C>A c.(1600-1602)CAC>AAC p.H534N BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.H534N NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 534 Beta-propeller 2.|Extracellular (Potential).|LDL-receptor class B 9. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) CCAAATATGTGAGGAATTTTG 0.398 NaN 1 0 4.97629e-18 0.01441 5.61156e-18 58 126 PIK3C2G 5288 broad.mit.edu 37 12 18650568 18650568 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:18650568C>T uc001rdt.2 + 21 2895 c.2779C>T c.(2779-2781)CGT>TGT p.R927C PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.R968C|PIK3C2G_uc010sic.1_Missense_Mutation_p.R746C NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 927 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) AGATGATCTTCGTCAGGATAT 0.363 NaN 0 0 0 0.013537 0 8 41 SLCO1B1 10599 broad.mit.edu 37 12 21392046 21392046 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:21392046G>A uc001req.3 + 15 2103 c.1999G>A c.(1999-2001)GAA>AAA p.E667K NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 667 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TGTCATGGATGAAGCAAACTT 0.318 NaN 0 0 0 0.00308 0 8 28 ABCC9 10060 broad.mit.edu 37 12 21958120 21958120 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:21958120C>T uc001rfi.1 - 38 4658 c.4638G>A c.(4636-4638)ATG>ATA p.M1546I ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.M1510I|ABCC9_uc001rfg.2_Intron NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1546 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.R1546H(1) ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACTTGTTGGTCATCACCAAAG 0.438 NaN 0 0 0 0.010504 0 16 62 IRAK4 51135 broad.mit.edu 37 12 44176171 44176171 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:44176171G>C uc001rnu.3 + 10 1133 c.1003G>C c.(1003-1005)GCT>CCT p.A335P IRAK4_uc001rnt.3_Missense_Mutation_p.A335P|IRAK4_uc001rnx.3_Missense_Mutation_p.A211P|IRAK4_uc001rny.3_Missense_Mutation_p.A211P|IRAK4_uc010sky.1_Missense_Mutation_p.A211P|IRAK4_uc001rnv.3_Missense_Mutation_p.A211P|IRAK4_uc001rnw.3_Missense_Mutation_p.A211P NM_001114182 NP_001107654 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 335 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) CCTTGCACGGGCTTCTGAGAA 0.388 NaN 0 0 0 0.008871 0 16 41 COL2A1 1280 broad.mit.edu 37 12 48375126 48375126 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:48375126C>T uc001rqu.2 - 37 2644 c.2463G>A c.(2461-2463)CCG>CCA p.P821P COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.P752P NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 821 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) AGACACTCACCGGAGCGCCAC 0.662 NaN 0 0 0 0.010729 0 8 16 MLL2 8085 broad.mit.edu 37 12 49448457 49448457 + Missense_Mutation SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 A G A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:49448457A>G uc001rta.3 - 3 254 c.254T>C c.(253-255)TTT>TCT p.F85S NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 85 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 TGGCAACTCAAAGCGCCGTAG 0.622 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.004672 0 3 10 KRT80 144501 broad.mit.edu 37 12 52574306 52574306 + Silent SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:52574306G>T uc001rzx.2 - 4 755 c.657C>A c.(655-657)ATC>ATA p.I219I KRT80_uc001rzw.2_Silent_p.I254I|KRT80_uc001rzy.2_Silent_p.I219I NM_182507 NP_872313 Q6KB66 K2C80_HUMAN keratin 80 isoform a 219 Coil 1B.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.108) CCTGCTCATAGATGGTTTTCA 0.552 NaN 1 0 4.67007e-22 0.00874 5.38073e-22 36 158 KRT76 51350 broad.mit.edu 37 12 53165706 53165706 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:53165706G>C uc001sax.2 - 6 1266 c.1212C>G c.(1210-1212)CTC>CTG p.L404L NM_015848 NP_056932 Q01546 K22O_HUMAN keratin 76 404 Rod.|Coil 2. cytoskeleton organization keratin filament structural molecule activity breast(1)|skin(1) 2 TCATCCTGTTGAGCTCCATGA 0.547 NaN 0 0 0 0.01441 0 44 91 PTPRB 5787 broad.mit.edu 37 12 70956762 70956762 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:70956762G>C uc001swb.3 - 14 3406 c.3376C>G c.(3376-3378)CTC>GTC p.L1126V PTPRB_uc010sto.1_Missense_Mutation_p.L1036V|PTPRB_uc010stp.1_Missense_Mutation_p.L1036V|PTPRB_uc001swc.3_Missense_Mutation_p.L1344V|PTPRB_uc001swa.3_Missense_Mutation_p.L1256V|PTPRB_uc001swd.3_Missense_Mutation_p.L1343V|PTPRB_uc009zrr.1_Missense_Mutation_p.L1223V NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1126 Fibronectin type-III 13.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTCTCCTGGAGATTCCCATCT 0.512 NaN 0 0 0 0.004482 0 8 60 TBC1D15 64786 broad.mit.edu 37 12 72312286 72312286 + Silent SNP C C T rs141790587 byFrequency TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:72312286C>T uc001swu.2 + 15 1683 c.1674C>T c.(1672-1674)TTC>TTT p.F558F TBC1D15_uc010stt.1_Silent_p.F527F|TBC1D15_uc001swv.2_Silent_p.F541F|TBC1D15_uc001sww.2_Silent_p.F290F NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 536 Rab-GAP TBC. protein binding|Rab GTPase activator activity 0 TAATCAGATTCAAAAGGGAAT 0.294 NaN 0 0 0 0.003271 0 27 92 NAV3 89795 broad.mit.edu 37 12 78400995 78400995 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:78400995G>A uc001syp.2 + 8 1850 c.1677G>A c.(1675-1677)GGG>GGA p.G559G NAV3_uc001syo.2_Silent_p.G559G NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 559 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTACCAAGGGGAGCCCTTCCC 0.483 NaN HNSCC(70;0.22) 0 0 0 0.014323 0 19 46 LRRIQ1 84125 broad.mit.edu 37 12 85450069 85450069 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:85450069G>A uc001tac.2 + 8 1609 c.1498G>A c.(1498-1500)GAA>AAA p.E500K LRRIQ1_uc001tab.1_Missense_Mutation_p.E500K|LRRIQ1_uc001taa.1_Missense_Mutation_p.E475K NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 500 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) GGTCAAGCAAGAAAGAAAATA 0.303 NaN 0 0 0 0.001855 0 10 37 UTP20 27340 broad.mit.edu 37 12 101682793 101682793 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:101682793G>C uc001tia.1 + 6 727 c.571G>C c.(571-573)GAA>CAA p.E191Q UTP20_uc009ztz.1_Missense_Mutation_p.E191Q NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 191 HEAT 1. endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 TTTTGCTGCTGAAAGTTTTAC 0.254 NaN 0 0 0 0.006214 0 8 29 UTP20 27340 broad.mit.edu 37 12 101767377 101767377 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:101767377G>C uc001tia.1 + 54 7119 c.6963G>C c.(6961-6963)GAG>GAC p.E2321D NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 2321 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 TGCTCCATGAGAACTGCGGAA 0.478 NaN 0 0 0 0.007413 0 15 25 NT5DC3 51559 broad.mit.edu 37 12 104187715 104187715 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:104187715C>G uc010swe.1 - 7 855 c.814G>C c.(814-816)GAA>CAA p.E272Q NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 272 hydrolase activity|metal ion binding ovary(2)|skin(1) 3 GAGCACATACCAATGTCTGCT 0.413 NaN 0 0 0 0.008361 0 21 80 BRAP 8315 broad.mit.edu 37 12 112123571 112123571 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:112123571C>G uc001tsn.3 - 1 220 c.26G>C c.(25-27)CGA>CCA p.R9P BRAP_uc009zvv.2_5'Flank|ACAD10_uc009zvw.2_5'Flank|ACAD10_uc001tso.3_5'Flank|ACAD10_uc001tsp.2_5'Flank|ACAD10_uc009zvx.2_5'Flank|ACAD10_uc001tsq.2_5'Flank NM_006768 NP_006759 Q7Z569 BRAP_HUMAN BRCA1 associated protein 9 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding lung(1) 1 GAGCTCCAATCGGATAACAAC 0.612 NaN 0 0 0 0.008291 0 9 12 RNF10 9921 broad.mit.edu 37 12 121001720 121001720 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:121001720G>C uc001typ.3 + 10 2122 c.1639G>C c.(1639-1641)GAG>CAG p.E547Q RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.E458Q NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 547 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AACTGTGGTGGAGATTGCTGG 0.552 NaN 0 0 0 0.004656 0 19 153 KNTC1 9735 broad.mit.edu 37 12 123095437 123095437 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:123095437C>T uc001ucv.2 + 53 5775 c.5612C>T c.(5611-5613)TCA>TTA p.S1871L KNTC1_uc010taf.1_Missense_Mutation_p.S796L NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1871 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTTGCAACATCAACTACAACC 0.333 NaN 0 0 0 0.003163 0 12 47 ULK1 8408 broad.mit.edu 37 12 132404537 132404537 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:132404537G>C uc001uje.2 + 26 3085 c.2817G>C c.(2815-2817)CTG>CTC p.L939L NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 939 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TGCGCAGGCTGAATGAGCTGT 0.647 NaN 0 0 0 0.010729 0 9 48 MPHOSPH8 54737 broad.mit.edu 37 13 20242605 20242605 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:20242605C>G uc001umh.2 + 11 2272 c.2263C>G c.(2263-2265)CGA>GGA p.R755G MPHOSPH8_uc001umg.2_Missense_Mutation_p.R755G NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 755 cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) CGCATGTCATCGACTCTGTGA 0.413 NaN 0 0 0 0.006214 0 10 32 XPO4 64328 broad.mit.edu 37 13 21442798 21442798 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:21442798C>G uc001unq.3 - 2 148 c.112G>C c.(112-114)GAG>CAG p.E38Q XPO4_uc010tcr.1_Intron NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 38 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AATATGTGCTCTGCATGCTGG 0.323 NaN 0 0 0 0.01441 0 54 121 ATP12A 479 broad.mit.edu 37 13 25280593 25280593 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:25280593C>A uc001upp.2 + 15 2348 c.2161C>A c.(2161-2163)CAG>AAG p.Q721K ATP12A_uc010aaa.2_Missense_Mutation_p.Q727K NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 721 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GGAGGGCTGTCAGAGGCAGGT 0.567 NaN 1 0 7.87624e-14 0.00278 8.5829e-14 18 29 USPL1 10208 broad.mit.edu 37 13 31205593 31205593 + Nonsense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:31205593C>T uc001utc.2 + 4 1282 c.850C>T c.(850-852)CAA>TAA p.Q284* USPL1_uc001utb.2_Nonsense_Mutation_p.Q103*|USPL1_uc001utd.2_Intron|USPL1_uc001ute.1_5'Flank NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 284 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) ATATACCAGTCAATTGAGTGG 0.249 NaN 0 0 0 0.00333 0 20 62 FRY 10129 broad.mit.edu 37 13 32808828 32808828 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:32808828C>A uc001utx.2 + 42 6141 c.5645C>A c.(5644-5646)TCA>TAA p.S1882* FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1882 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CAACCTCTGTCAGCACATGCC 0.512 NaN 1 0 4.35082e-09 0.010504 4.63716e-09 17 41 STOML3 161003 broad.mit.edu 37 13 39540963 39540963 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:39540963C>T uc001uwx.2 - 7 1013 c.875G>A c.(874-876)TGA>TAA p.*292* STOML3_uc010tez.1_Silent_p.*283* NM_145286 NP_660329 Q8TAV4 STML3_HUMAN stomatin-like 3 isoform 1 292 integral to membrane|plasma membrane ovary(1) 1 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) AAGAGGACCTCAGGCTTTATT 0.443 NaN 0 0 0 0.005524 0 29 59 PCDH8 5100 broad.mit.edu 37 13 53419572 53419572 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:53419572G>C uc001vhi.2 - 2 3030 c.2827C>G c.(2827-2829)CAC>GAC p.H943D PCDH8_uc001vhj.2_Missense_Mutation_p.H846D NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 943 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CTCTGCATGTGGTTGATGAGA 0.532 NaN 0 0 0 0.013726 0 29 39 DACH1 1602 broad.mit.edu 37 13 72053449 72053449 + Splice_Site SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:72053449C>T uc010thn.1 - 9 2146 c.1723_splice c.e9-1 p.G575_splice DACH1_uc010tho.1_Splice_Site_p.G427_splice|DACH1_uc010thp.1_Splice_Site_p.G373_splice NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TCAACAGCCCCTGTACAAAGA 0.358 NaN 0 0 0 0.003755 0 26 109 RNF219 79596 broad.mit.edu 37 13 79190193 79190193 + Nonsense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:79190193G>C uc001vkw.1 - 6 1762 c.1703C>G c.(1702-1704)TCA>TGA p.S568* uc001vku.1_RNA|RNF219_uc010afb.1_Nonsense_Mutation_p.S378*|RNF219_uc010afc.2_Intron NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 568 Ser-rich. zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) AGATGACTTTGATAACCCATC 0.383 NaN 0 0 0 0.01441 0 63 133 CLYBL 171425 broad.mit.edu 37 13 100523272 100523272 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:100523272G>A uc001vok.2 + 7 897 c.883G>A c.(883-885)GAA>AAA p.E295K CLYBL_uc010tiy.1_Missense_Mutation_p.E261K NM_206808 NP_996531 Q8N0X4 CLYBL_HUMAN citrate lyase beta like precursor 295 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TAAGTGGGCTGAAGAACTGAT 0.393 NaN 0 0 0 0.00333 0 22 69 SALL2 6297 broad.mit.edu 37 14 21991095 21991095 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:21991095G>A uc001wbe.2 - 2 3049 c.2767C>T c.(2767-2769)CAG>TAG p.Q923* SALL2_uc010tly.1_Nonsense_Mutation_p.Q921*|SALL2_uc010tlz.1_Nonsense_Mutation_p.Q786*|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Nonsense_Mutation_p.Q788*|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 923 C2H2-type 6. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) AGAGCTGCCTGGGAGGGAAAG 0.597 NaN 0 0 0 0.00632 0 27 68 LRP10 26020 broad.mit.edu 37 14 23342569 23342569 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:23342569G>C uc001whd.2 + 3 682 c.129G>C c.(127-129)CAG>CAC p.Q43H LRP10_uc001whe.2_5'Flank NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 43 CUB 1.|Extracellular (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GCACCTTACAGAGGCCCCTGG 0.602 NaN 0 0 0 0.005443 0 26 53 ACIN1 22985 broad.mit.edu 37 14 23530572 23530572 + Nonsense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:23530572G>C uc001wit.3 - 17 3861 c.3533C>G c.(3532-3534)TCA>TGA p.S1178* ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Nonsense_Mutation_p.S420*|ACIN1_uc001wiq.3_Nonsense_Mutation_p.S420*|ACIN1_uc001wir.3_Nonsense_Mutation_p.S451*|ACIN1_uc001wis.3_Nonsense_Mutation_p.S859*|ACIN1_uc010akg.2_Nonsense_Mutation_p.S1165* NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1178 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ACGGGACCTTGATCGGGAACG 0.567 NaN 0 0 0 0.00623 0 33 105 MYH6 4624 broad.mit.edu 37 14 23858626 23858626 + Missense_Mutation SNP T T G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:23858626T>G uc001wjv.2 - 28 4021 c.3954A>C c.(3952-3954)AAA>AAC p.K1318N uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1318 Potential. 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) CCAGCTGCCTTTTGAGGTCCT 0.607 NaN 0 0 0 0.006122 0 16 124 MYH7 4625 broad.mit.edu 37 14 23891402 23891402 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:23891402C>G uc001wjx.2 - 25 3338 c.3232G>C c.(3232-3234)GAG>CAG p.E1078Q NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1078 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTCAGCCGCTCATCCAGCTGC 0.592 NaN 0 0 0 0.003271 0 27 89 RABGGTA 5875 broad.mit.edu 37 14 24738898 24738898 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:24738898G>A uc001wof.2 - 5 852 c.430C>T c.(430-432)CAC>TAC p.H144Y RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.H144Y|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA NM_004581 NP_004572 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase alpha 144 PFTA 3. visual perception Rab geranylgeranyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(265;0.0184) TCCCAGCAGTGAACTGGAGGG 0.587 NaN 0 0 0 0.013537 0 11 13 CDKL1 8814 broad.mit.edu 37 14 50825768 50825768 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:50825768C>T uc010anu.1 - 14 2083 c.2083G>A c.(2083-2085)GAG>AAG p.E695K CDKL1_uc001wxz.2_Missense_Mutation_p.E91K NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 90 Protein kinase. cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) CTGTCCAACTCATGGAGAACT 0.453 NaN 0 0 0 0.01441 0 50 145 TXNDC16 57544 broad.mit.edu 37 14 52905928 52905928 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:52905928G>C uc001wzs.2 - 20 2637 c.2188C>G c.(2188-2190)CAT>GAT p.H730D TXNDC16_uc010tqu.1_Missense_Mutation_p.H725D|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 730 cell redox homeostasis extracellular region 0 Breast(41;0.0716) TTACTGATATGATTTTCTAGT 0.333 NaN 0 0 0 0.008291 0 9 41 GMFB 2764 broad.mit.edu 37 14 54950455 54950455 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:54950455C>A uc010tqz.1 - 2 133 c.34G>T c.(34-36)GAA>TAA p.E12* GMFB_uc001xaw.1_RNA NM_004124 NP_004115 P60983 GMFB_HUMAN glia maturation factor, beta 12 ADF-H. nervous system development|protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity 0 ACTAAATCTTCGGCAACATCA 0.338 NaN 1 0 3.32936e-07 0.006122 3.50364e-07 11 29 ARID4A 5926 broad.mit.edu 37 14 58831818 58831818 + Nonsense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:58831818C>G uc001xdp.2 + 20 3265 c.3011C>G c.(3010-3012)TCA>TGA p.S1004* ARID4A_uc001xdo.2_Nonsense_Mutation_p.S1004*|ARID4A_uc001xdq.2_Nonsense_Mutation_p.S1004*|ARID4A_uc010apg.1_Nonsense_Mutation_p.S682* NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 1004 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 CATAACTTTTCAGTAGCTTCA 0.403 NaN 0 0 0 0.010504 0 19 170 KIAA0586 9786 broad.mit.edu 37 14 58895165 58895165 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:58895165G>C uc001xdv.3 + 1 456 c.183G>C c.(181-183)TTG>TTC p.L61F KIAA0586_uc010trr.1_Missense_Mutation_p.L61F|KIAA0586_uc001xdt.3_Intron|KIAA0586_uc001xdu.3_Missense_Mutation_p.L46F|KIAA0586_uc010trs.1_Intron|TIMM9_uc010aph.2_5'Flank|TIMM9_uc001xds.2_5'Flank|TIMM9_uc010api.2_5'Flank NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 61 ovary(1) 1 GGACTAGTTTGAATGGAACAT 0.383 NaN 0 0 0 0.004656 0 20 55 PPP2R5E 5529 broad.mit.edu 37 14 63851225 63851225 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:63851225G>C uc001xgd.1 - 12 1729 c.1139C>G c.(1138-1140)TCT>TGT p.S380C PPP2R5E_uc010tsf.1_Missense_Mutation_p.S304C|PPP2R5E_uc010tsg.1_Missense_Mutation_p.S304C|PPP2R5E_uc001xge.2_Missense_Mutation_p.S380C|PPP2R5E_uc010tsh.1_Missense_Mutation_p.S380C|PPP2R5E_uc001xgf.1_RNA NM_006246 NP_006237 Q16537 2A5E_HUMAN epsilon isoform of regulatory subunit B56, 380 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) GATGACGTTAGAGTTTTCTTC 0.363 NaN 0 0 0 0.01441 0 47 123 SYNE2 23224 broad.mit.edu 37 14 64518876 64518876 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:64518876G>A uc001xgm.2 + 48 8475 c.8245G>A c.(8245-8247)GAA>AAA p.E2749K SYNE2_uc001xgl.2_Missense_Mutation_p.E2749K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2749 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTTGTTGGGTGAACTTAATCC 0.413 NaN 0 0 0 0.01441 0 61 199 TTC8 123016 broad.mit.edu 37 14 89336504 89336504 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:89336504C>G uc010ath.2 + 11 1193 c.1059C>G c.(1057-1059)TTC>TTG p.F353L TTC8_uc001xxl.2_Missense_Mutation_p.F98L|TTC8_uc010ati.2_Missense_Mutation_p.F139L|TTC8_uc001xxm.2_Missense_Mutation_p.F297L|TTC8_uc010atj.2_Missense_Mutation_p.F72L|TTC8_uc001xxi.2_Missense_Mutation_p.F337L|TTC8_uc001xxj.2_Missense_Mutation_p.F327L|TTC8_uc001xxk.2_Missense_Mutation_p.F297L NM_198309 NP_938051 Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 isoform B 363 TPR 5. cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding 0 GCAACCACTTCTATTCTGATC 0.363 NaN Bardet-Biedl_syndrome 0 0 0 0.01441 0 94 131 TDP1 55775 broad.mit.edu 37 14 90429788 90429788 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:90429788C>G uc001xxy.2 + 3 629 c.330C>G c.(328-330)ATC>ATG p.I110M TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.I110M|TDP1_uc010atn.2_Missense_Mutation_p.I110M|TDP1_uc001xya.2_Translation_Start_Site|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.I110M|TDP1_uc001xyc.1_Missense_Mutation_p.I110M NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 110 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) AAGTGGTGATCAAAAAGGAGA 0.542 NaN Repair_of_DNA-protein_crosslinks 0 0 0 0.004656 0 24 53 GPR68 8111 broad.mit.edu 37 14 91701248 91701248 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:91701248C>G uc001xzg.2 - 2 488 c.147G>C c.(145-147)CAG>CAC p.Q49H GPR68_uc001xzh.2_Missense_Mutation_p.Q59H NM_003485 NP_003476 Q15743 OGR1_HUMAN G protein-coupled receptor 68 49 Cytoplasmic (Potential). inflammatory response integral to plasma membrane G-protein coupled receptor activity p.N49S(1) kidney(1) 1 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) GGGCCTTGATCTGCAGGTAGC 0.622 NaN 0 0 0 0.010504 0 15 32 TRIP11 9321 broad.mit.edu 37 14 92471718 92471718 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:92471718C>G uc001xzy.2 - 11 3390 c.2602G>C c.(2602-2604)GAA>CAA p.E868Q TRIP11_uc010auf.1_Missense_Mutation_p.E604Q NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 868 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) CGTTCCAATTCTTCTTGCAGA 0.418 NaN T PDGFRB AML 0 0 0 0.004656 0 24 68 HSP90AA1 3320 broad.mit.edu 37 14 102551299 102551299 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:102551299C>A uc001yku.3 - 5 890 c.700G>T c.(700-702)GAG>TAG p.E234* HSP90AA1_uc001ykv.3_Nonsense_Mutation_p.E356*|HSP90AA1_uc001ykw.1_Nonsense_Mutation_p.E55*|HSP90AA1_uc001ykx.1_Nonsense_Mutation_p.E223* NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 234 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) tcttcAGCCTCATCATCGCTT 0.323 NaN 1 0 2.80697e-09 0.010729 2.99719e-09 11 26 HSP90AA1 3320 broad.mit.edu 37 14 102552620 102552620 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:102552620C>G uc001yku.3 - 2 286 c.96G>C c.(94-96)TTG>TTC p.L32F HSP90AA1_uc001ykv.3_Missense_Mutation_p.L154F|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Missense_Mutation_p.L21F NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 32 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) TATTGATGATCAATGACATCA 0.443 NaN 0 0 0 0.005443 0 27 71 INF2 64423 broad.mit.edu 37 14 105172458 105172458 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:105172458C>G uc001ypb.2 + 6 931 c.788C>G c.(787-789)TCT>TGT p.S263C INF2_uc010tyi.1_Missense_Mutation_p.S263C|INF2_uc001ypc.2_Missense_Mutation_p.S263C|INF2_uc010awz.1_5'Flank NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 263 GBD/FH3. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CTGCGAGTCTCTGGCGGGGTC 0.672 NaN 0 0 0 0.006214 0 8 14 INF2 64423 broad.mit.edu 37 14 105173276 105173276 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:105173276C>G uc001ypb.2 + 7 1016 c.873C>G c.(871-873)CTC>CTG p.L291L INF2_uc010tyi.1_Silent_p.L291L|INF2_uc001ypc.2_Silent_p.L291L|INF2_uc010awz.1_5'Flank NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 291 GBD/FH3. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CTGCCCAGCTCCTGTCGGTGC 0.706 NaN 0 0 0 0.007413 0 15 22 INF2 64423 broad.mit.edu 37 14 105174062 105174062 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:105174062C>G uc001ypb.2 + 8 1601 c.1458C>G c.(1456-1458)TTC>TTG p.F486L INF2_uc010tyi.1_Missense_Mutation_p.F486L|INF2_uc001ypc.2_Missense_Mutation_p.F486L|INF2_uc010awz.1_RNA NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 486 Pro-rich. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) cctgtgagttcctgcccccac 0.179 NaN 0 0 0 0.004672 0 2 0 INF2 64423 broad.mit.edu 37 14 105174218 105174218 + Silent SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:105174218C>A uc001ypb.2 + 8 1757 c.1614C>A c.(1612-1614)ATC>ATA p.I538I INF2_uc010tyi.1_Silent_p.I538I|INF2_uc001ypc.2_Silent_p.I538I|INF2_uc010awz.1_RNA NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 538 actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) AGGAGGTCATCGTGGCCCAGG 0.652 NaN 1 0 3.59834e-05 0.001168 3.73279e-05 5 23 MTMR15 22909 broad.mit.edu 37 15 31197525 31197525 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:31197525C>G uc001zff.2 + 2 950 c.659C>G c.(658-660)TCT>TGT p.S220C MTMR15_uc001zfc.3_Missense_Mutation_p.S220C|MTMR15_uc010azw.2_Missense_Mutation_p.S220C|MTMR15_uc001zfd.3_Missense_Mutation_p.S220C|MTMR15_uc001zfe.2_5'UTR NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 220 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) AAATGTGATTCTCTAAAGGAA 0.393 NaN Direct_reversal_of_damage|Editing_and_processing_nucleases 0 0 0 0.010504 0 20 38 C15orf55 256646 broad.mit.edu 37 15 34645971 34645971 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:34645971C>A uc001zif.2 + 4 1044 c.889C>A c.(889-891)CAG>AAG p.Q297K C15orf55_uc010ucc.1_Missense_Mutation_p.Q325K|C15orf55_uc010ucd.1_Missense_Mutation_p.Q315K NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 297 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GATGCAGATTCAGAACACACA 0.542 NaN T BRD3|BRD4 lethal midline carcinoma 1 0 6.14515e-18 0.01441 6.90293e-18 41 59 LRRC57 255252 broad.mit.edu 37 15 42839461 42839461 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:42839461G>C uc001zqd.1 - 3 858 c.490C>G c.(490-492)CAG>GAG p.Q164E HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Missense_Mutation_p.Q164E NM_153260 NP_694992 Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 164 LRR 6. 0 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) CTCTAGACCTGATTCTGGTTG 0.443 NaN 0 0 0 0.010729 0 9 59 DMXL2 23312 broad.mit.edu 37 15 51758463 51758463 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:51758463C>T uc002abf.2 - 30 7660 c.7435G>A c.(7435-7437)GAA>AAA p.E2479K DMXL2_uc002abd.2_Missense_Mutation_p.E550K|DMXL2_uc010ufy.1_Missense_Mutation_p.E2480K|DMXL2_uc010bfa.2_Missense_Mutation_p.E1843K NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2479 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TGAATGCTTTCATCAGAATCA 0.269 NaN 0 0 0 0.01441 0 37 68 SLTM 79811 broad.mit.edu 37 15 59191829 59191829 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:59191829C>A uc002afp.2 - 7 985 c.897G>T c.(895-897)ATG>ATT p.M299I SLTM_uc002afo.2_Missense_Mutation_p.M281I|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.M198I NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 299 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 GGTTCGCATTCATCTCATAAT 0.448 NaN 1 0 1.48734e-19 0.013114 1.70692e-19 37 118 RBPMS2 348093 broad.mit.edu 37 15 65040670 65040670 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:65040670G>A uc002anq.2 - 6 767 c.515C>T c.(514-516)GCT>GTT p.A172V NM_194272 NP_919248 Q6ZRY4 RBPS2_HUMAN RNA binding protein with multiple splicing 2 172 nucleic acid binding|nucleotide binding 0 GGTGAACGCAGCATGGGAGAT 0.622 NaN 0 0 0 0.007291 0 24 51 IGDCC4 57722 broad.mit.edu 37 15 65680830 65680830 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:65680830G>C uc002aou.1 - 16 3012 c.2802C>G c.(2800-2802)TTC>TTG p.F934L IGDCC4_uc002aot.1_Missense_Mutation_p.F522L NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 934 Extracellular (Potential).|Fibronectin type-III 5. integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GCAGGCGGGAGAAAGGCCCAG 0.602 NaN 0 0 0 0.01441 0 59 169 IGDCC4 57722 broad.mit.edu 37 15 65693281 65693281 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:65693281G>A uc002aou.1 - 5 914 c.704C>T c.(703-705)TCC>TTC p.S235F NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 235 Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GGACGCCAGGGACCCTGGCGA 0.408 NaN OREG0023196 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.012213 0 29 62 LCTL 197021 broad.mit.edu 37 15 66845384 66845384 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:66845384G>T uc002aqc.2 - 9 1267 c.1135C>A c.(1135-1137)CTG>ATG p.L379M LCTL_uc002aqd.3_Missense_Mutation_p.L206M|LCTL_uc010bhw.2_Missense_Mutation_p.L77M NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 379 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 TTAGACCCCAGATCTGGCCAG 0.493 NaN 1 0 4.96729e-08 0.008871 5.26533e-08 16 100 SMAD3 4088 broad.mit.edu 37 15 67457371 67457371 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:67457371G>A uc002aqj.2 + 2 643 c.345G>A c.(343-345)ATG>ATA p.M115I SMAD3_uc010ujr.1_Missense_Mutation_p.M10I|SMAD3_uc010ujs.1_Missense_Mutation_p.M71I|SMAD3_uc010ujt.1_5'Flank NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 115 MH1. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CCTTCAATATGAAGAAGGACG 0.602 NaN 0 0 0 0.007413 0 15 99 HMG20A 10363 broad.mit.edu 37 15 77770687 77770687 + Nonsense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:77770687G>T uc002bcr.2 + 9 943 c.742G>T c.(742-744)GAG>TAG p.E248* HMG20A_uc002bcs.2_Nonsense_Mutation_p.E248* NM_018200 NP_060670 Q9NP66 HM20A_HUMAN high-mobility group 20A 248 Potential. chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 GGAGTTTGAGGAGAGGAATGC 0.557 NaN 1 0 4.87955e-14 0.005443 5.34733e-14 26 64 AKAP13 11214 broad.mit.edu 37 15 86064775 86064775 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:86064775C>T uc002blv.1 + 3 320 c.150C>T c.(148-150)GTC>GTT p.V50V AKAP13_uc002bls.2_Silent_p.V50V|AKAP13_uc002blt.1_Silent_p.V50V|AKAP13_uc002blu.1_Silent_p.V50V NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 50 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 CTCGGAAGGTCAGTTCTGATA 0.418 NaN 0 0 0 0.008871 0 17 103 NTRK3 4916 broad.mit.edu 37 15 88576243 88576243 + Nonsense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:88576243G>C uc002bme.1 - 13 1592 c.1430C>G c.(1429-1431)TCA>TGA p.S477* NTRK3_uc002bmh.2_Nonsense_Mutation_p.S469*|NTRK3_uc002bmf.1_Nonsense_Mutation_p.S477*|NTRK3_uc010upl.1_Nonsense_Mutation_p.S379*|NTRK3_uc010bnh.1_Nonsense_Mutation_p.S469*|NTRK3_uc002bmg.2_Nonsense_Mutation_p.S477*|NTRK3_uc010bni.2_RNA NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 477 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) TGGGCTGGCTGAGTCCTCCTC 0.622 NaN T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 0 0 0 0.000602 0 5 12 ANPEP 290 broad.mit.edu 37 15 90348336 90348336 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:90348336C>T uc002bop.3 - 4 1162 c.870G>A c.(868-870)GTG>GTA p.V290V NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 290 Extracellular.|Interaction with HCoV-229E.|Metalloprotease. DYVEKQAS->QSVEETAQ: No change in receptor activity and HCoV-229E infection.|DYVEKQAS->QSVNETAQ: Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity.|DYVEKQAS->QSVNEQAQ: No change in receptor activity and HCoV-229E infection. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CCTGCTTCTCCACGTAGTCGA 0.562 NaN 0 0 0 0.01441 0 45 105 ANPEP 290 broad.mit.edu 37 15 90348636 90348636 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:90348636C>G uc002bop.3 - 3 965 c.673G>C c.(673-675)GAT>CAT p.D225H NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 225 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GCCGGCTCATCGAAGCATGGG 0.607 NaN 0 0 0 0.00632 0 24 34 IQGAP1 8826 broad.mit.edu 37 15 91020904 91020904 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:91020904G>A uc002bpl.1 + 26 3213 c.3112G>A c.(3112-3114)GTA>ATA p.V1038I NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1038 Ras-GAP.|C1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TAGGTCGAAGGTAGATCAGAT 0.393 NaN 0 0 0 0.003163 0 15 68 IQGAP1 8826 broad.mit.edu 37 15 91020921 91020921 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:91020921G>C uc002bpl.1 + 26 3230 c.3129G>C c.(3127-3129)GAG>GAC p.E1043D NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1043 Ras-GAP.|C1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AGATTCAAGAGATTGTGACAG 0.413 NaN 0 0 0 0.010504 0 20 72 SV2B 9899 broad.mit.edu 37 15 91835762 91835762 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:91835762C>G uc002bqv.2 + 12 2423 c.2032C>G c.(2032-2034)CGA>GGA p.R678G SV2B_uc010uqv.1_Missense_Mutation_p.R527G|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 678 Cytoplasmic (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GCCAGAGACTCGAGAACAGGT 0.512 NaN 0 0 0 0.012319 0 18 105 CHD2 1106 broad.mit.edu 37 15 93558002 93558002 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:93558002C>G uc002bsp.2 + 37 5344 c.4769C>G c.(4768-4770)TCT>TGT p.S1590C CHD2_uc002bso.1_Missense_Mutation_p.S1590C NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1590 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AGCCGGGACTCTCTGATATCT 0.512 NaN 0 0 0 0.01441 0 57 102 PIGQ 9091 broad.mit.edu 37 16 624461 624461 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:624461C>T uc002cho.2 + 2 489 c.387C>T c.(385-387)ATC>ATT p.I129I PIGQ_uc010bqw.2_Silent_p.I129I|PIGQ_uc002chm.2_Silent_p.I129I|PIGQ_uc002chn.2_Silent_p.I129I|PIGQ_uc010uui.1_Silent_p.I143I NM_148920 NP_683721 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 129 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1) 1 Hepatocellular(780;0.00335) TCATGCTCATCTTCTATGACC 0.692 NaN 0 0 0 0.00308 0 6 12 FAM195A 84331 broad.mit.edu 37 16 697532 697532 + Missense_Mutation SNP T T A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:697532T>A uc002cic.1 + 3 441 c.298T>A c.(298-300)TTT>ATT p.F100I FAM195A_uc002cid.1_Intron|FAM195A_uc002cie.2_Silent_p.A28A|FAM195A_uc002cif.1_RNA|WDR90_uc002cig.1_5'Flank|WDR90_uc002cih.1_5'Flank|WDR90_uc002cii.1_5'Flank|WDR90_uc002cij.1_5'Flank NM_138418 NP_612427 Q9BUT9 F195A_HUMAN hypothetical protein LOC84331 100 0 GAATGTCCGCTTTGTGTCCGA 0.637 NaN 0 0 0 0.006214 0 7 23 MSLN 10232 broad.mit.edu 37 16 814666 814666 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:814666G>A uc002cjw.1 + 6 371 c.320G>A c.(319-321)CGG>CAG p.R107Q MSLN_uc002cjt.1_Missense_Mutation_p.R107Q|MSLN_uc002cju.1_Missense_Mutation_p.R107Q|MSLN_uc010brd.1_Missense_Mutation_p.R106Q|MSLN_uc002cjv.1_Missense_Mutation_p.R107Q|MSLN_uc002cjx.1_Missense_Mutation_p.R107Q|MSLN_uc002cjy.1_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 107 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) CTGGCTCACCGGCTCTCTGAG 0.682 NaN 0 0 0 0.01441 0 53 127 CORO7 79585 broad.mit.edu 37 16 4390379 4390379 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:4390379C>T uc002cwf.2 - 31 3531 c.3088G>A c.(3088-3090)GAG>AAG p.E1030K CORO7_uc002cwe.2_RNA|TIMM16_uc002cwd.2_Missense_Mutation_p.E107K NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 Error:Variant_position_missing_in_P57737_after_alignment cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 TTGAGTTCCTCATCCAGGCGC 0.622 NaN 0 0 0 0.004656 0 23 41 ZKSCAN2 342357 broad.mit.edu 37 16 25251339 25251339 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:25251339C>G uc002dod.3 - 7 3109 c.2702G>C c.(2701-2703)AGA>ACA p.R901T ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R697T NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 901 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) TTCTCGAAATCTCGTACAGTT 0.458 NaN 0 0 0 0.003163 0 13 29 APOB48R 55911 broad.mit.edu 37 16 28508751 28508751 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:28508751G>A uc002dqb.1 + 3 2372 c.2362G>A c.(2362-2364)GAG>AAG p.E788K uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.E326K NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 788 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 AGAAAAGGAAGAGGCAGCAGC 0.572 NaN 0 0 0 0.001984 0 6 10 ITGAX 3687 broad.mit.edu 37 16 31391116 31391116 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:31391116C>T uc002ebu.1 + 25 2974 c.2907C>T c.(2905-2907)ATC>ATT p.I969I ITGAX_uc002ebt.2_Silent_p.I969I NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 969 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTGTCAGCATCAACTTCTGGG 0.617 NaN 0 0 0 0.010729 0 8 24 CMTM2 146225 broad.mit.edu 37 16 66620940 66620940 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:66620940G>A uc002ept.2 + 3 645 c.485G>A c.(484-486)GGA>GAA p.G162E CMTM2_uc010cdu.2_Missense_Mutation_p.G109E NM_144673 NP_653274 Q8TAZ6 CKLF2_HUMAN chemokine-like factor superfamily 2 162 MARVEL.|Helical; (Potential). chemotaxis extracellular space|integral to membrane cytokine activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) TTCCTTGTGGGAGCCGTGGTC 0.522 NaN 0 0 0 0.00499 0 14 87 EXOC3L 283849 broad.mit.edu 37 16 67218811 67218811 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:67218811G>A uc002erx.1 - 12 2140 c.1899C>T c.(1897-1899)CTC>CTT p.L633L KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Silent_p.L284L|EXOC3L_uc002ery.1_Silent_p.L535L|EXOC3L_uc010vje.1_Silent_p.L530L NM_178516 NP_848611 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 633 exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616) TCACCAAACTGAGGAAAAGCT 0.687 NaN 0 0 0 0.004672 0 3 22 AGRP 181 broad.mit.edu 37 16 67517183 67517183 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:67517183G>C uc002etg.1 - 2 419 c.119C>G c.(118-120)CCA>CGA p.P40R ATP6V0D1_uc002ete.1_5'Flank|ATP6V0D1_uc010vjo.1_5'Flank NM_001138 NP_001129 O00253 AGRP_HUMAN agouti related protein homolog isoform 1 40 hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior extracellular space|Golgi lumen neuropeptide hormone activity 0 Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16) TGGGAGCTCTGGGAGCAGGGC 0.637 NaN 0 0 0 0.004672 0 3 4 THAP11 57215 broad.mit.edu 37 16 67876898 67876898 + Silent SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:67876898G>T uc002euo.2 + 1 686 c.441G>T c.(439-441)CCG>CCT p.P147P CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) AGCTGCAGCCGAACCTGGTAT 0.468 NaN 1 0 2.56175e-15 0.01441 2.83935e-15 35 182 EDC4 23644 broad.mit.edu 37 16 67917616 67917616 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:67917616G>C uc002eur.2 + 28 4161 c.3995G>C c.(3994-3996)CGA>CCA p.R1332P EDC4_uc010cer.2_Missense_Mutation_p.R951P|EDC4_uc002eus.2_Missense_Mutation_p.R1062P|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 1332 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTTGGCACTCGAACTGACCTC 0.617 NaN OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 42 220 SLC7A6 9057 broad.mit.edu 37 16 68308901 68308901 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:68308901C>G uc002evt.1 + 4 581 c.272C>G c.(271-273)TCT>TGT p.S91C SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.S91C|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA NM_001076785 NP_001070253 Q92536 YLAT2_HUMAN solute carrier family 7 (cationic amino acid 91 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) GGGCTCTTCTCTGTTGTGGGT 0.547 NaN 0 0 0 0.010771 0 33 48 HYDIN 54768 broad.mit.edu 37 16 71008159 71008159 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:71008159C>G uc002ezr.2 - 33 5079 c.4951G>C c.(4951-4953)GAA>CAA p.E1651Q NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1652 ovary(1)|skin(1) 2 Ovarian(137;0.0654) ATTTCCGTTTCACAATGAGGT 0.428 NaN 0 0 0 0.000602 0 4 20 GLG1 2734 broad.mit.edu 37 16 74511362 74511362 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:74511362G>C uc002fcy.3 - 12 1947 c.1897C>G c.(1897-1899)CCT>GCT p.P633A GLG1_uc002fcx.2_Missense_Mutation_p.P633A|GLG1_uc002fcw.3_Missense_Mutation_p.P622A|GLG1_uc002fcz.3_Missense_Mutation_p.P50A NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 633 Cys-rich GLG1 9.|Extracellular (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 TGGAGGGCAGGATCCAGCTTG 0.483 NaN 0 0 0 0.01441 0 84 58 RFWD3 55159 broad.mit.edu 37 16 74685877 74685877 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:74685877G>A uc002fda.2 - 3 760 c.662C>T c.(661-663)TCT>TTT p.S221F RFWD3_uc010cgq.2_Missense_Mutation_p.S221F NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 221 S -> P (in Ref. 1; BAF83889). DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 ATACTCTGCAGAGCTGTCACT 0.468 NaN 0 0 0 0.01441 0 82 53 ADAT1 23536 broad.mit.edu 37 16 75642774 75642774 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:75642774C>G uc002feo.1 - 8 1258 c.1156G>C c.(1156-1158)GAT>CAT p.D386H ADAT1_uc002fep.1_Missense_Mutation_p.D237H NM_012091 NP_036223 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 386 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity ovary(1)|skin(1) 2 CCTGGGCTATCAGCCCTTTTT 0.512 NaN 0 0 0 0.005443 0 23 57 TERF2IP 54386 broad.mit.edu 37 16 75681873 75681873 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:75681873C>G uc002fet.1 + 1 190 c.93C>G c.(91-93)TTC>TTG p.F31L KARS_uc002fer.2_5'Flank|KARS_uc002feq.2_5'Flank|KARS_uc002fes.2_5'Flank|KARS_uc010cha.1_Intron NM_018975 NP_061848 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting 31 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 CCATGTCCTTCTACGTGCGGC 0.682 NaN 0 0 0 0.001855 0 12 52 MLYCD 23417 broad.mit.edu 37 16 83948929 83948929 + Silent SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:83948929G>T uc002fgz.2 + 5 1337 c.1317G>T c.(1315-1317)GTG>GTT p.V439V NM_012213 NP_036345 O95822 DCMC_HUMAN malonyl-CoA decarboxylase precursor 439 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity 0 TGGCGGATGTGAGCCTCAGAG 0.637 NaN 1 0 1.799e-87 0.01441 2.11455e-87 121 71 FOXC2 2303 broad.mit.edu 37 16 86601504 86601504 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:86601504C>T uc002fjq.2 + 1 648 c.563C>T c.(562-564)CCG>CTG p.P188L NM_005251 NP_005242 Q99958 FOXC2_HUMAN forkhead box C2 188 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding 0 GAGCCGCCCCCGGCGGCGTCC 0.701 NaN Late-onset_Hereditary_Lymphedema 0 0 0 0.008291 0 7 18 SPATA2L 124044 broad.mit.edu 37 16 89763774 89763774 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:89763774G>C uc002foj.2 - 3 1308 c.1243C>G c.(1243-1245)CTG>GTG p.L415V SPATA2L_uc002fok.2_Intron NM_152339 NP_689552 Q8IUW3 SPA2L_HUMAN spermatogenesis associated 2-like 415 0 Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0272) TTGTAGAGCAGAGTGTCCATC 0.687 NaN 0 0 0 0.009096 0 4 14 FANCA 2175 broad.mit.edu 37 16 89807249 89807249 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:89807249G>T uc002fou.1 - 38 3833 c.3791C>A c.(3790-3792)TCC>TAC p.S1264Y ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fos.3_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc010vpn.1_Missense_Mutation_p.S1264Y|FANCA_uc010vpo.1_Missense_Mutation_p.S350Y NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 1264 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GCCCATCAAGGAGAAGAAGAA 0.453 NaN D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 1 0 1.2644e-06 0.010504 1.32581e-06 18 22 ZZEF1 23140 broad.mit.edu 37 17 3984727 3984727 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:3984727C>T uc002fxe.2 - 18 2836 c.2772G>A c.(2770-2772)ATG>ATA p.M924I ZZEF1_uc002fxk.1_Missense_Mutation_p.M925I NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 924 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 CACTGATGTTCATCTTGGCCA 0.498 NaN 0 0 0 0.01441 0 44 50 ZZEF1 23140 broad.mit.edu 37 17 4045961 4045961 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:4045961G>A uc002fxe.2 - 1 293 c.229C>T c.(229-231)CGC>TGC p.R77C ZZEF1_uc002fxk.1_Missense_Mutation_p.R77C|CYB5D2_uc002fxm.3_5'Flank|CYB5D2_uc010cko.2_5'Flank|CYB5D2_uc002fxl.3_5'Flank NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 77 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 AACGCGCCGCGATGCCTCGAC 0.721 NaN 0 0 0 0.008291 0 8 11 USP6 9098 broad.mit.edu 37 17 5041507 5041507 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:5041507C>T uc002gau.1 + 21 3247 c.1017C>T c.(1015-1017)CTC>CTT p.L339L USP6_uc002gav.1_Silent_p.L339L|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 339 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 ACACCGTGCTCAAGCATCTTA 0.577 NaN T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 0 0 0 0.010818 0 30 93 PITPNM3 83394 broad.mit.edu 37 17 6374547 6374547 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:6374547C>A uc002gdd.3 - 12 1709 c.1558G>T c.(1558-1560)GAG>TAG p.E520* PITPNM3_uc010cln.2_Nonsense_Mutation_p.E484*|PITPNM3_uc010clm.2_Nonsense_Mutation_p.E3*|PITPNM3_uc002gdc.3_Nonsense_Mutation_p.E111* NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 520 DDHD. phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) GAGCTCCCCTCGCTCATCCTC 0.687 NaN 1 0 0.00448238 0.004482 0.00460075 7 18 ASGR2 433 broad.mit.edu 37 17 7010563 7010563 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:7010563G>A uc002gep.3 - 6 763 c.498C>T c.(496-498)CTC>CTT p.L166L ASGR2_uc010vtk.1_Silent_p.L3L|ASGR2_uc002gem.1_Silent_p.L105L|ASGR2_uc002gen.1_Silent_p.L147L|ASGR2_uc002geo.1_Silent_p.L161L|ASGR2_uc002ger.3_Silent_p.L166L|ASGR2_uc002geq.3_Silent_p.L142L NM_001181 NP_001172 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 isoform a 166 Extracellular (Potential). cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding ovary(1) 1 Antihemophilic Factor(DB00025) TGCTGTGGAGGAGCTCCATCT 0.642 NaN 0 0 0 0.010729 0 10 14 MYH3 4621 broad.mit.edu 37 17 10539066 10539067 + Missense_Mutation DNP CC CC TT TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:10539066_10539067CC>TT uc002gmq.1 - 28 4037_4038 c.3960_3961GG>AA c.(3958-3963)CTGGAG>CTAAAG p.E1321K NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1321 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TTCTCTTCCTCCAGCTGCCTCT 0.426 NaN 0 0 0 0.004672 0 52 77 PIP4K2B 8396 broad.mit.edu 37 17 36935741 36935741 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:36935741G>C uc002hqs.2 - 5 1030 c.549C>G c.(547-549)TTC>TTG p.F183L PIP4K2B_uc010wdt.1_Missense_Mutation_p.F183L|PIP4K2B_uc010wdu.1_Missense_Mutation_p.F119L NM_003559 NP_003550 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 183 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity ovary(1) 1 ACATGCCCAGGAACTGTGGCA 0.522 NaN 0 0 0 0.00499 0 17 42 MED24 9862 broad.mit.edu 37 17 38192035 38192035 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:38192035G>A uc002htt.2 - 5 579 c.266C>T c.(265-267)TCT>TTT p.S89F MED24_uc010wes.1_5'Flank|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.S114F|MED24_uc002htu.2_Missense_Mutation_p.S76F|MED24_uc010cwn.2_Missense_Mutation_p.S76F|MED24_uc010weu.1_Intron|MED24_uc010wev.1_Missense_Mutation_p.S39F|MED24_uc010wew.1_Missense_Mutation_p.S18F|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.S39F|MED24_uc010wfb.1_Missense_Mutation_p.S101F|MED24_uc010wfc.1_Missense_Mutation_p.S26F NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 89 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) CAGGTCCCGAGAAAAGTCATC 0.532 NaN 0 0 0 0.004482 0 8 47 NR1D1 9572 broad.mit.edu 37 17 38253600 38253600 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:38253600C>G uc002htz.1 - 2 714 c.88G>C c.(88-90)GAA>CAA p.E30Q NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_5'Flank NM_021724 NP_068370 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 30 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding skin(1) 1 Colorectal(19;0.000442) TAGAGGGATTCAGGGCTGGTG 0.587 NaN 0 0 0 0.010504 0 17 22 CASC3 22794 broad.mit.edu 37 17 38297460 38297460 + Nonsense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:38297460G>T uc010cwt.1 + 2 527 c.232G>T c.(232-234)GAG>TAG p.E78* CASC3_uc010cws.1_Nonsense_Mutation_p.E78*|CASC3_uc002hue.2_Nonsense_Mutation_p.E78* NM_007359 NP_031385 O15234 CASC3_HUMAN metastatic lymph node 51 78 mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding ovary(1) 1 TTTCTTTCAGGAGAGTGAAGA 0.403 NaN 1 0 2.6465e-34 0.01441 3.09821e-34 59 86 TOP2A 7153 broad.mit.edu 37 17 38569453 38569453 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:38569453G>C uc002huq.2 - 6 696 c.570C>G c.(568-570)TTC>TTG p.F190L TOP2A_uc002hur.1_5'Flank NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 190 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) TTGCCTGTTTGAACATTTTCT 0.328 NaN 0 0 0 0.004672 0 2 5 KRT12 3859 broad.mit.edu 37 17 39017927 39017927 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:39017927C>T uc002hvk.2 - 8 1495 c.1471G>A c.(1471-1473)GAA>AAA p.E491K NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 491 Tail. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) ATTAGTTCTTCAATTTCCTGA 0.373 NaN 0 0 0 0.003163 0 9 57 KRT12 3859 broad.mit.edu 37 17 39017933 39017933 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:39017933C>A uc002hvk.2 - 8 1489 c.1465G>T c.(1465-1467)GAA>TAA p.E489* NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 489 Tail. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) TCTTCAATTTCCTGAACTTGA 0.368 NaN 1 0 6.31663e-08 0.003163 6.67136e-08 11 65 FAM134C 162427 broad.mit.edu 37 17 40733844 40733844 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:40733844G>C uc002ial.2 - 9 1491 c.1388C>G c.(1387-1389)TCT>TGT p.S463C FAM134C_uc010wgq.1_Missense_Mutation_p.S263C|FAM134C_uc002iam.1_Missense_Mutation_p.S263C|FAM134C_uc010cyk.1_Missense_Mutation_p.S366C NM_178126 NP_835227 Q86VR2 F134C_HUMAN hypothetical protein LOC162427 463 integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) GTGGCTCCTAGAACTGGCAGG 0.547 NaN 0 0 0 0.007413 0 16 34 ADAM11 4185 broad.mit.edu 37 17 42849819 42849819 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:42849819G>C uc002ihh.2 + 8 663 c.663G>C c.(661-663)CTG>CTC p.L221L ADAM11_uc010wjd.1_Missense_Mutation_p.E23Q NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 221 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) GGCCGAGGCTGAGAAGGAAAA 0.706 NaN 0 0 0 0.004672 0 3 7 PLEKHM1 9842 broad.mit.edu 37 17 43522898 43522898 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:43522898C>G uc002ija.2 - 9 2945 c.2775G>C c.(2773-2775)CTG>CTC p.L925L PLEKHM1_uc010wjm.1_Silent_p.L897L|PLEKHM1_uc002ijb.2_Silent_p.L400L|PLEKHM1_uc010wjn.1_Silent_p.L874L NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 925 intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) CCAGGAGCTTCAGCTGCTCCC 0.592 NaN 0 0 0 0.006122 0 17 57 MYCBPAP 84073 broad.mit.edu 37 17 48604701 48604701 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:48604701C>T uc010wmr.1 + 15 2514 c.2352C>T c.(2350-2352)CTC>CTT p.L784L MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 747 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TGATGAGGCTCAACAAAGCAG 0.592 NaN 0 0 0 0.010504 0 20 119 CACNA1G 8913 broad.mit.edu 37 17 48655779 48655779 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:48655779G>C uc002irk.1 + 9 2527 c.2155G>C c.(2155-2157)GAT>CAT p.D719H CACNA1G_uc002iri.1_Missense_Mutation_p.D719H|CACNA1G_uc002irj.1_Missense_Mutation_p.D719H|CACNA1G_uc002irl.1_Missense_Mutation_p.D719H|CACNA1G_uc002irm.1_Missense_Mutation_p.D719H|CACNA1G_uc002irn.1_Missense_Mutation_p.D719H|CACNA1G_uc002iro.1_Missense_Mutation_p.D719H|CACNA1G_uc002irp.1_Missense_Mutation_p.D719H|CACNA1G_uc002irq.1_Missense_Mutation_p.D719H|CACNA1G_uc002irr.1_Missense_Mutation_p.D719H|CACNA1G_uc002irs.1_Missense_Mutation_p.D719H|CACNA1G_uc002irt.1_Missense_Mutation_p.D719H|CACNA1G_uc002irv.1_Missense_Mutation_p.D719H|CACNA1G_uc002irw.1_Missense_Mutation_p.D719H|CACNA1G_uc002iru.1_Missense_Mutation_p.D719H|CACNA1G_uc002irx.1_Missense_Mutation_p.D632H|CACNA1G_uc002iry.1_Missense_Mutation_p.D632H|CACNA1G_uc002irz.1_Missense_Mutation_p.D632H|CACNA1G_uc002isa.1_Missense_Mutation_p.D632H|CACNA1G_uc002isb.1_Missense_Mutation_p.D632H|CACNA1G_uc002isc.1_Missense_Mutation_p.D632H|CACNA1G_uc002isd.1_Missense_Mutation_p.D632H|CACNA1G_uc002ise.1_Missense_Mutation_p.D632H|CACNA1G_uc002isf.1_Missense_Mutation_p.D632H|CACNA1G_uc002isg.1_Missense_Mutation_p.D632H|CACNA1G_uc002ish.1_Missense_Mutation_p.D632H|CACNA1G_uc002isi.1_Missense_Mutation_p.D632H NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 719 Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCTGGGCCCAGATGCAGAGCC 0.602 NaN 0 0 0 0.004007 0 17 61 HEATR6 63897 broad.mit.edu 37 17 58123500 58123500 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:58123500C>G uc002iyk.1 - 19 2877 c.2860G>C c.(2860-2862)GAG>CAG p.E954Q HEATR6_uc010ddk.1_Missense_Mutation_p.E493Q|HEATR6_uc010wos.1_Missense_Mutation_p.E674Q NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 954 binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) ATAGACTCCTCAATGATTTCT 0.393 NaN 0 0 0 0.008361 0 25 62 HEATR6 63897 broad.mit.edu 37 17 58156241 58156241 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:58156241G>A uc002iyk.1 - 1 52 c.35C>T c.(34-36)TCC>TTC p.S12F NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 12 binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) CGGCTGCACGGAAGGCCACGA 0.652 NaN 0 0 0 0.000602 0 4 26 GH1 2688 broad.mit.edu 37 17 61994708 61994708 + Silent SNP G G A rs148474991 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:61994708G>A uc002jdj.2 - 5 677 c.615C>T c.(613-615)ATC>ATT p.I205I GH1_uc002jdi.2_Silent_p.I190I|GH1_uc002jdk.2_Silent_p.I165I|GH1_uc002jdl.2_Silent_p.I110I|GH1_uc002jdm.2_3'UTR|GH1_uc002jdn.2_Missense_Mutation_p.S159L NM_000515 NP_000506 P01241 SOMA_HUMAN growth hormone 1 isoform 1 205 I -> M (in short stature; idiopathic autosomal). glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding 0 GGCACTGCACGATGCGCAGGA 0.592 NaN 0 0 0 0.008361 0 25 61 LRRC37A3 374819 broad.mit.edu 37 17 62854903 62854903 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:62854903G>C uc002jey.2 - 12 5334 c.4803C>G c.(4801-4803)CTC>CTG p.L1601L LRRC37A3_uc010wqg.1_Silent_p.L719L|LRRC37A3_uc002jex.1_Silent_p.L578L|LRRC37A3_uc010wqf.1_Silent_p.L639L NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1601 Helical; (Potential). integral to membrane 0 TTACCTCAATGAGGCAGAGAA 0.383 NaN 0 0 0 0.007413 0 20 57 ABCA6 23460 broad.mit.edu 37 17 67132242 67132242 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:67132242C>G uc002jhw.1 - 4 626 c.451G>C c.(451-453)GAT>CAT p.D151H ABCA6_uc002jhy.2_Missense_Mutation_p.D149H NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 151 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) CCTGAGAAATCTTCTTTCCAA 0.323 NaN 0 0 0 0.001168 0 5 31 CD300LF 146722 broad.mit.edu 37 17 72699199 72699199 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:72699199G>C uc002jlg.2 - 3 524 c.421C>G c.(421-423)CTG>GTG p.L141V RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Missense_Mutation_p.L144V|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Missense_Mutation_p.L141V|CD300LF_uc002jli.2_Missense_Mutation_p.L144V|CD300LF_uc010wra.1_Missense_Mutation_p.L156V|CD300LF_uc002jlj.1_Missense_Mutation_p.L159V NM_139018 NP_620587 Q8TDQ1 CLM1_HUMAN NK inhibitory receptor precursor 141 Extracellular (Potential). integral to membrane|plasma membrane receptor activity upper_aerodigestive_tract(1) 1 TGGCCGGTCAGAGTTGGGGAG 0.547 NaN 0 0 0 0.001855 0 11 104 CDK3 1018 broad.mit.edu 37 17 73998125 73998125 + Missense_Mutation SNP G G C rs140567861 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:73998125G>C uc010dgt.2 + 4 293 c.217G>C c.(217-219)GAG>CAG p.E73Q CDK3_uc002jqg.3_Missense_Mutation_p.E101Q NM_001258 NP_001249 Q00526 CDK3_HUMAN cyclin-dependent kinase 3 73 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 GGTGCACAACGAGAGGAAGCT 0.572 NaN 0 0 0 0.006122 0 14 68 C17orf70 80233 broad.mit.edu 37 17 79517599 79517599 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:79517599C>T uc002kaq.2 - 3 976 c.921G>A c.(919-921)GTG>GTA p.V307V C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.V156V NM_001109760 NP_001103230 Q0VG06 FP100_HUMAN Fanconi anemia core complex 100 kDa subunit 307 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding ovary(1)|skin(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) AGTCACAGTGCACATCCTCGT 0.607 NaN 0 0 0 0.004007 0 12 74 CD7 924 broad.mit.edu 37 17 80274738 80274738 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:80274738C>G uc002kel.1 - 2 311 c.202G>C c.(202-204)GAC>CAC p.D68H CD7_uc010din.2_Missense_Mutation_p.D68H|CD7_uc002kem.2_Missense_Mutation_p.R49T|CD7_uc010wvk.1_Missense_Mutation_p.D68H NM_006137 NP_006128 P09564 CD7_HUMAN CD7 antigen precursor 68 Ig-like.|Extracellular (Probable). immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity 0 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) TAAATGATGTCTTGGGGCTGT 0.632 NaN 0 0 0 0.00632 0 24 55 SLC14A2 8170 broad.mit.edu 37 18 43206949 43206949 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:43206949G>C uc010dnj.2 + 5 679 c.358G>C c.(358-360)GAC>CAC p.D120H SLC14A2_uc002lbb.2_Missense_Mutation_p.D120H|SLC14A2_uc002lbe.2_Missense_Mutation_p.D120H NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 120 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 CCAGTTCATAGACTGGGTCCT 0.557 NaN 0 0 0 0.012319 0 18 78 SLC14A2 8170 broad.mit.edu 37 18 43216988 43216988 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:43216988C>T uc010dnj.2 + 7 1005 c.684C>T c.(682-684)TTC>TTT p.F228F SLC14A2_uc002lbb.2_Silent_p.F228F|SLC14A2_uc002lbe.2_Silent_p.F228F NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 228 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 ATTCCATCTTCAGCAAGTGGG 0.512 NaN 0 0 0 0.01441 0 107 236 C18orf25 147339 broad.mit.edu 37 18 43842948 43842948 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:43842948C>T uc002lbw.2 + 6 1461 c.1082C>T c.(1081-1083)TCG>TTG p.S361L C18orf25_uc002lbx.2_Missense_Mutation_p.S300L NM_145055 NP_659492 Q96B23 CR025_HUMAN ARKadia-like 1 isoform a 360 central_nervous_system(2) 2 AAGCATGGCTCGGGCACGCAG 0.493 NaN 0 0 0 0.005443 0 19 113 ATP8B1 5205 broad.mit.edu 37 18 55351301 55351301 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:55351301C>G uc002lgw.2 - 14 1597 c.1597G>C c.(1597-1599)GTT>CTT p.V533L uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 533 Cytoplasmic (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) GTGTGGCAAACTGCGAGCAAG 0.448 NaN Byler_disease 0 0 0 0.006122 0 13 69 ATP8B1 5205 broad.mit.edu 37 18 55351394 55351394 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:55351394C>T uc002lgw.2 - 14 1504 c.1504G>A c.(1504-1506)GAT>AAT p.D502N uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 502 Cytoplasmic (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) AGCTTCCCATCAGCATATGTA 0.348 NaN Byler_disease 0 0 0 0.008291 0 9 33 MC4R 4160 broad.mit.edu 37 18 58038833 58038833 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:58038833C>T uc002lie.1 - 1 1169 c.750G>A c.(748-750)CTG>CTA p.L250L NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 250 Helical; Name=6; (Potential). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) AGACGCCAATCAGGATGGTCA 0.498 NaN 0 0 0 0.005443 0 23 29 ZNF555 148254 broad.mit.edu 37 19 2852858 2852858 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:2852858C>A uc002lwo.2 + 4 884 c.795C>A c.(793-795)TTC>TTA p.F265L ZNF555_uc002lwn.3_Missense_Mutation_p.F264L NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 265 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAAGCTTTCAGTTATTCCT 0.408 NaN 1 0 9.70103e-10 0.008291 1.03774e-09 9 50 PLIN3 10226 broad.mit.edu 37 19 4859922 4859922 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:4859922C>T uc002mbj.2 - 3 358 c.181G>A c.(181-183)GAC>AAC p.D61N PLIN3_uc002mbk.2_Missense_Mutation_p.D61N|PLIN3_uc002mbl.3_Missense_Mutation_p.D61N NM_005817 NP_005808 O60664 PLIN3_HUMAN mannose 6 phosphate receptor binding protein 1 61 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding 0 Galsulfase(DB01279)|Idursulfase(DB01271) TCTGCTGCGTCGCAGACAGTC 0.637 NaN 0 0 0 0.000602 0 3 25 GTF2F1 2962 broad.mit.edu 37 19 6392882 6392882 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:6392882G>A uc002meq.2 - 2 330 c.45C>T c.(43-45)GTC>GTT p.V15V GTF2F1_uc010xjc.1_5'Flank NM_002096 NP_002087 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 15 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding 0 GAACTCGAACGACGTATTCAG 0.587 NaN OREG0025199 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 44 186 ANGPTL4 51129 broad.mit.edu 37 19 8436324 8436324 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:8436324C>G uc002mjq.1 + 6 1152 c.957C>G c.(955-957)CCC>CCG p.P319P ANGPTL4_uc002mjr.1_Silent_p.P281P|ANGPTL4_uc010xkc.1_Silent_p.P152P NM_139314 NP_647475 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 protein isoform a precursor 319 Fibrinogen C-terminal. angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding ovary(1) 1 CCGTCCCACCCAGCGGCCTCT 0.667 NaN 0 0 0 0.001984 0 5 25 MUC16 94025 broad.mit.edu 37 19 9062870 9062870 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:9062870C>G uc002mkp.2 - 3 24780 c.24576G>C c.(24574-24576)ATG>ATC p.M8192I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8194 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGATTCTGTCATTATGCTGG 0.483 NaN 0 0 0 0.013537 0 13 31 DNMT1 1786 broad.mit.edu 37 19 10286275 10286275 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:10286275G>C uc002mng.2 - 6 721 c.541C>G c.(541-543)CAG>GAG p.Q181E DNMT1_uc010xlc.1_Missense_Mutation_p.Q197E|DNMT1_uc002mnh.2_Missense_Mutation_p.Q76E|DNMT1_uc010xld.1_Missense_Mutation_p.Q181E NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 181 Nuclear localization signal (Potential).|Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GACTCTTCCTGAGGTTTCCGT 0.512 NaN 0 0 0 0.007291 0 23 53 DNMT1 1786 broad.mit.edu 37 19 10287981 10287981 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:10287981G>C uc002mng.2 - 5 688 c.508C>G c.(508-510)CAT>GAT p.H170D DNMT1_uc010xlc.1_Missense_Mutation_p.H186D|DNMT1_uc002mnh.2_Missense_Mutation_p.H65D|DNMT1_uc010xld.1_Missense_Mutation_p.H170D|DNMT1_uc010dxb.1_RNA NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 170 Interaction with PCNA.|Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity). H->V: Abolishes interaction with PCNA. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TTTGCAAAATGAGATGTGATG 0.438 NaN 0 0 0 0.006214 0 7 36 NWD1 284434 broad.mit.edu 37 19 16860125 16860125 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:16860125C>G uc002neu.3 + 6 1094 c.672C>G c.(670-672)CTC>CTG p.L224L NWD1_uc002net.3_Silent_p.L89L|NWD1_uc002nev.3_Silent_p.L18L Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 224 ATP binding skin(3)|ovary(2)|pancreas(2) 7 AGAACCTTCTCAGCAGCCTCA 0.587 NaN 0 0 0 0.013537 0 12 64 CILP2 148113 broad.mit.edu 37 19 19654990 19654990 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:19654990G>A uc002nmv.3 + 8 1721 c.1636G>A c.(1636-1638)GGC>AGC p.G546S CILP2_uc002nmw.3_Missense_Mutation_p.G552S NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 546 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 TCGAGGTGCCGGCGTGTACCA 0.617 NaN 0 0 0 0.004672 0 3 71 ZNF208 7757 broad.mit.edu 37 19 22155282 22155282 + Missense_Mutation SNP T T C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:22155282T>C uc002nqp.2 - 5 2403 c.2254A>G c.(2254-2256)AAG>GAG p.K752E ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAATTACCTTATGTTTAGTA 0.373 NaN 0 0 0 0.001168 0 3 83 HAUS5 23354 broad.mit.edu 37 19 36108218 36108218 + Silent SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:36108218G>T uc002oam.1 + 8 636 c.585G>T c.(583-585)CGG>CGT p.R195R NM_015302 NP_056117 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 195 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle 0 GCACCCTCCGGGCCCAGTTCC 0.632 NaN 1 0 2.64894e-19 0.01441 3.01628e-19 35 52 HCST 10870 broad.mit.edu 37 19 36394703 36394703 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:36394703C>G uc002ocl.1 + 3 253 c.139C>G c.(139-141)CTG>GTG p.L47V HCST_uc002ock.1_Missense_Mutation_p.L47V NM_014266 NP_055081 Q9UBK5 HCST_HUMAN hematopoietic cell signal transducer isoform 1 47 Extracellular (Potential). regulation of immune response integral to membrane|plasma membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GTCCCTCTCTCTGCCGCTCCT 0.682 NaN 0 0 0 0.00308 0 5 32 ZNF567 163081 broad.mit.edu 37 19 37211086 37211086 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:37211086G>C uc010xtl.1 + 6 1682 c.1460G>C c.(1459-1461)AGA>ACA p.R487T ZNF567_uc002oeo.1_Missense_Mutation_p.R487T|ZNF567_uc010xtk.1_Missense_Mutation_p.R487T|ZNF567_uc002oep.3_Missense_Mutation_p.R456T|ZNF567_uc002oeq.1_Missense_Mutation_p.R456T NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 487 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AAGGCCTTTAGAATGAAGTCA 0.418 NaN 0 0 0 0.005443 0 22 69 SYMPK 8189 broad.mit.edu 37 19 46345718 46345718 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:46345718G>A uc002pdn.2 - 9 1122 c.877C>T c.(877-879)CAG>TAG p.Q293* SYMPK_uc002pdo.1_Nonsense_Mutation_p.Q293*|SYMPK_uc002pdp.1_Nonsense_Mutation_p.Q293*|SYMPK_uc002pdq.1_Nonsense_Mutation_p.Q293* NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 293 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CTGCTCACCTGCGATTTGGCC 0.562 NaN 0 0 0 0.010504 0 15 80 IRF2BP1 26145 broad.mit.edu 37 19 46387865 46387865 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:46387865C>T uc002pds.1 - 1 1512 c.1168G>A c.(1168-1170)GAG>AAG p.E390K NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CCAGCCGCCTCGCCCTCCGGC 0.751 NaN 0 0 0 0.006214 0 9 20 NR1H2 7376 broad.mit.edu 37 19 50881884 50881884 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:50881884C>A uc010enw.2 + 7 857 c.581C>A c.(580-582)TCA>TAA p.S194* NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Nonsense_Mutation_p.S193*|NR1H2_uc002psa.3_Nonsense_Mutation_p.S96* NM_007121 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 193 Poly-Ser. negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) AGCAGCAGCTCAGCCTCTGGG 0.607 NaN 1 0 7.05477e-17 0.00499 7.86411e-17 16 17 ZNF547 284306 broad.mit.edu 37 19 57888951 57888951 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:57888951C>G uc002qol.2 + 4 800 c.607C>G c.(607-609)CAG>GAG p.Q203E ZNF547_uc002qpm.3_Missense_Mutation_p.Q129E|ZNF547_uc010ygx.1_Missense_Mutation_p.Q203E NM_173631 NP_775902 Q8IVP9 ZN547_HUMAN zinc finger protein 547 203 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAATAGACATCAGAGAACTCA 0.418 NaN 0 0 0 0.003271 0 28 39 ZNF549 256051 broad.mit.edu 37 19 58048854 58048854 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:58048854G>A uc002qpb.1 + 4 731 c.482G>A c.(481-483)AGA>AAA p.R161K ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.R148K NM_153263 NP_694995 Q6P9A3 ZN549_HUMAN zinc finger protein 549 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAACACATCAGAAAGGAGGAG 0.453 NaN 0 0 0 0.00278 0 22 50 ZNF587 84914 broad.mit.edu 37 19 58367529 58367529 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:58367529C>T uc002qql.2 + 2 229 c.91C>T c.(91-93)CTT>TTT p.L31F ZNF587_uc002qqb.2_5'UTR|ZNF587_uc010yhh.1_5'UTR|ZNF587_uc002qqi.1_5'UTR|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Missense_Mutation_p.L30F NM_032828 NP_116217 Q96SQ5 ZN587_HUMAN zinc finger protein 587 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) GGAGTGGTGTCTTCTTAGTGA 0.512 NaN 0 0 0 0.007291 0 17 67 MYT1L 23040 broad.mit.edu 37 2 1914104 1914104 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:1914104C>G uc002qxe.2 - 13 2552 c.1725G>C c.(1723-1725)CCG>CCC p.P575P MYT1L_uc002qxd.2_Silent_p.P573P|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 575 C2HC-type 3. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTGCAGCGATCGGGCATCCGG 0.587 NaN 0 0 0 0.00333 0 22 51 TAF1B 9014 broad.mit.edu 37 2 10008450 10008450 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:10008450G>A uc002qzz.2 + 6 545 c.445G>A c.(445-447)GAG>AAG p.E149K TAF1B_uc010exc.2_Missense_Mutation_p.E149K|TAF1B_uc002qzy.3_Missense_Mutation_p.E149K|TAF1B_uc010yja.1_5'UTR|TAF1B_uc010exd.2_5'UTR NM_005680 NP_005671 Q53T94 TAF1B_HUMAN TBP-associated factor 1B 149 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1)|pancreas(1) 3 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TAGTGAGCCTGAGCTGCTAAG 0.398 NaN 0 0 0 0.005443 0 19 48 GREB1 9687 broad.mit.edu 37 2 11728988 11728988 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:11728988G>A uc002rbk.1 + 10 1576 c.1276G>A c.(1276-1278)GCC>ACC p.A426T GREB1_uc002rbn.1_Missense_Mutation_p.A426T|GREB1_uc002rbo.1_Missense_Mutation_p.A60T NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 426 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCAGTACGGCGCCTCTGCCAT 0.597 NaN 0 0 0 0.01441 0 57 111 KIF3C 3797 broad.mit.edu 37 2 26204353 26204353 + Missense_Mutation SNP T T C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:26204353T>C uc002rgu.2 - 1 1091 c.434A>G c.(433-435)TAT>TGT p.Y145C KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.Y145C NM_002254 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 145 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATCTCCAAATAGGAGGCCCG 0.582 NaN 0 0 0 0.004289 0 31 71 KIF3C 3797 broad.mit.edu 37 2 26204403 26204403 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:26204403G>T uc002rgu.2 - 1 1041 c.384C>A c.(382-384)TTC>TTA p.F128L KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.F128L NM_002254 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 128 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGATGTGGGTGAAGATGTGCT 0.602 NaN 1 0 4.75821e-42 0.01441 5.58157e-42 44 91 NLRC4 58484 broad.mit.edu 37 2 32461380 32461380 + Silent SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:32461380C>A uc002roi.2 - 7 2796 c.2550G>T c.(2548-2550)CTG>CTT p.L850L NLRC4_uc002roj.1_Silent_p.L850L|NLRC4_uc010ezt.1_Silent_p.L185L NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 850 LRR 9. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CAAGAATGCTCAGTTTGACCA 0.303 NaN 1 0 7.87624e-14 0.00278 8.5829e-14 20 40 PLEKHH2 130271 broad.mit.edu 37 2 43919692 43919692 + Nonsense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:43919692C>T uc010yny.1 + 4 309 c.226C>T c.(226-228)CAA>TAA p.Q76* PLEKHH2_uc002rte.3_Nonsense_Mutation_p.Q76*|PLEKHH2_uc002rtf.3_Nonsense_Mutation_p.Q76* NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 76 Potential. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGCTAATATTCAAACCAGTGA 0.308 NaN 0 0 0 0.012319 0 18 109 SRBD1 55133 broad.mit.edu 37 2 45801777 45801777 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:45801777G>A uc002rus.2 - 8 1234 c.1158C>T c.(1156-1158)TTC>TTT p.F386F NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 386 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) AGTTCCGAATGAAGTCAAGCG 0.388 NaN 0 0 0 0.01441 0 40 82 PSME4 23198 broad.mit.edu 37 2 54122166 54122166 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:54122166C>T uc002rxp.2 - 34 3946 c.3890G>A c.(3889-3891)AGA>AAA p.R1297K PSME4_uc010yop.1_Missense_Mutation_p.R1183K|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.R672K|PSME4_uc010fbv.1_Missense_Mutation_p.R441K NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 1297 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CTCCCTGCTTCTGCCAAGCTT 0.388 NaN 0 0 0 0.01441 0 45 127 CCDC88A 55704 broad.mit.edu 37 2 55615938 55615938 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:55615938C>T uc002ryv.2 - 3 1091 c.249G>A c.(247-249)GTG>GTA p.V83V CCDC88A_uc010yoz.1_Silent_p.V83V|CCDC88A_uc010ypa.1_Silent_p.V83V NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 83 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TTATCTGTCTCACCAAAATGG 0.264 NaN 0 0 0 0.003271 0 30 70 UGP2 7360 broad.mit.edu 37 2 64083559 64083559 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:64083559G>C uc002scm.2 + 2 445 c.139G>C c.(139-141)GAA>CAA p.E47Q UGP2_uc002scl.2_Missense_Mutation_p.E36Q|UGP2_uc010ypx.1_Missense_Mutation_p.E56Q NM_006759 NP_006750 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 isoform a 47 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity 0 ATCATCACATGAATTTGAGGT 0.458 NaN 0 0 0 0.013114 0 34 217 MEIS1 4211 broad.mit.edu 37 2 66795861 66795861 + Nonsense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:66795861C>T uc002sdu.2 + 11 1544 c.1087C>T c.(1087-1089)CAG>TAG p.Q363* MEIS1_uc002sdt.2_Nonsense_Mutation_p.Q363*|MEIS1_uc002sdv.2_Nonsense_Mutation_p.Q361*|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Nonsense_Mutation_p.Q298*|MEIS1_uc002sdw.1_Nonsense_Mutation_p.Q219* NM_002398 NP_002389 O00470 MEIS1_HUMAN Meis homeobox 1 363 Required for transcriptional activation (By similarity). sequence-specific DNA binding transcription factor activity 0 AATGGACGGTCAGCAACATAT 0.408 NaN 0 0 0 0.01441 0 98 255 ASPRV1 151516 broad.mit.edu 37 2 70188237 70188237 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:70188237C>T uc002sfz.3 - 1 1161 c.584G>A c.(583-585)GGC>GAC p.G195D NM_152792 NP_690005 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 precursor 195 Extracellular (Potential). protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity ovary(1) 1 GAGATAGTAGCCCTTACCCAT 0.602 NaN 0 0 0 0.003755 0 26 48 ASPRV1 151516 broad.mit.edu 37 2 70188460 70188460 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:70188460C>G uc002sfz.3 - 1 938 c.361G>C c.(361-363)GAA>CAA p.E121Q NM_152792 NP_690005 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 precursor 121 Extracellular (Potential). protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity ovary(1) 1 TTGATGACTTCAAAGCTGTGC 0.562 NaN 0 0 0 0.003163 0 13 54 ASPRV1 151516 broad.mit.edu 37 2 70188511 70188511 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:70188511C>G uc002sfz.3 - 1 887 c.310G>C c.(310-312)GAA>CAA p.E104Q NM_152792 NP_690005 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 precursor 104 Extracellular (Potential). protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity ovary(1) 1 TCAAAAGGTTCCGGGACGAAG 0.582 NaN 0 0 0 0.003954 0 22 66 ATP6V1B1 525 broad.mit.edu 37 2 71188791 71188791 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:71188791C>T uc002shj.2 + 8 840 c.753C>T c.(751-753)GTC>GTT p.V251V ATP6V1B1_uc002shi.1_Silent_p.V251V|ATP6V1B1_uc010fdv.2_Silent_p.V251V|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Silent_p.V209V NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 251 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 TGGGGAACGTCTGCCTCTTCC 0.567 NaN 0 0 0 0.007835 0 32 64 CAPG 822 broad.mit.edu 37 2 85622017 85622017 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:85622017C>T uc002spl.1 - 10 1296 c.1046G>A c.(1045-1047)TGA>TAA p.*349* CAPG_uc002spm.1_Silent_p.*334*|CAPG_uc010ysq.1_Silent_p.*349*|CAPG_uc010fgi.1_Silent_p.*349* NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 349 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 CGCCCACCCTCATTTCCAGTC 0.592 NaN 0 0 0 0.012319 0 17 48 CAPG 822 broad.mit.edu 37 2 85622055 85622055 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:85622055C>A uc002spl.1 - 10 1258 c.1008G>T c.(1006-1008)GAG>GAT p.E336D CAPG_uc002spm.1_Missense_Mutation_p.E321D|CAPG_uc010ysq.1_Missense_Mutation_p.E336D|CAPG_uc010fgi.1_Missense_Mutation_p.E336D NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 336 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 AGATGGGACTCTCATGGCCCT 0.597 NaN 1 0 0.000132079 0.008871 0.000136528 14 46 CAPG 822 broad.mit.edu 37 2 85625194 85625194 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:85625194C>T uc002spl.1 - 8 1091 c.841G>A c.(841-843)GAC>AAC p.D281N CAPG_uc002spm.1_Missense_Mutation_p.D266N|CAPG_uc010ysq.1_Missense_Mutation_p.D281N|CAPG_uc010fgi.1_Missense_Mutation_p.D281N|CAPG_uc010fgj.1_Missense_Mutation_p.D175N NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 281 Gelsolin-like 3. barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 ACAAAGCAGTCATCAGATATC 0.547 NaN 0 0 0 0.01441 0 23 129 CAPG 822 broad.mit.edu 37 2 85625197 85625197 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:85625197C>T uc002spl.1 - 8 1088 c.838G>A c.(838-840)GAT>AAT p.D280N CAPG_uc002spm.1_Missense_Mutation_p.D265N|CAPG_uc010ysq.1_Missense_Mutation_p.D280N|CAPG_uc010fgi.1_Missense_Mutation_p.D280N|CAPG_uc010fgj.1_Missense_Mutation_p.D174N NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 280 Gelsolin-like 3. barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 AAGCAGTCATCAGATATCAGC 0.547 NaN 0 0 0 0.01441 0 19 133 CAPG 822 broad.mit.edu 37 2 85625233 85625233 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:85625233C>T uc002spl.1 - 8 1052 c.802G>A c.(802-804)GAC>AAC p.D268N CAPG_uc002spm.1_Missense_Mutation_p.D253N|CAPG_uc010ysq.1_Missense_Mutation_p.D268N|CAPG_uc010fgi.1_Missense_Mutation_p.D268N|CAPG_uc010fgj.1_Missense_Mutation_p.D162N NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 268 Gelsolin-like 3. barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 GGGCTGGAGTCAGCCACCTTG 0.567 NaN 0 0 0 0.01441 0 22 101 CD8A 925 broad.mit.edu 37 2 87017470 87017470 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:87017470G>T uc002srt.2 - 2 1273 c.384C>A c.(382-384)TTC>TTA p.F128L RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.F128L|CD8A_uc010ytn.1_Missense_Mutation_p.F169L|CD8A_uc002sru.2_Missense_Mutation_p.F128L NM_001768 NP_001759 P01732 CD8A_HUMAN CD8 antigen alpha polypeptide isoform 1 128 Ig-like V-type.|Extracellular (Potential). antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding ovary(1) 1 AGACCGGCACGAAGTGGCTGA 0.627 NaN 1 0 3.99451e-17 0.009535 4.46986e-17 26 59 TMEM131 23505 broad.mit.edu 37 2 98409038 98409038 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:98409038C>T uc002syh.3 - 31 4184 c.3955G>A c.(3955-3957)GAA>AAA p.E1319K NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1319 Pro-rich. integral to membrane ovary(4)|central_nervous_system(2) 6 GACAGCCTTTCAGGCTGCGGC 0.677 NaN 0 0 0 0.00308 0 7 20 EIF5B 9669 broad.mit.edu 37 2 100006265 100006265 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:100006265G>A uc002tab.2 + 15 2540 c.2356G>A c.(2356-2358)GAA>AAA p.E786K NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 786 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 TACAAAAGATGAATTTGAGGA 0.353 NaN 0 0 0 0.006999 0 31 53 EIF5B 9669 broad.mit.edu 37 2 100006708 100006708 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:100006708G>C uc002tab.2 + 16 2614 c.2430G>C c.(2428-2430)GAG>GAC p.E810D NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 810 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 TGTTTTATGAGAATAAAGATC 0.428 NaN 0 0 0 0.01441 0 70 178 EIF5B 9669 broad.mit.edu 37 2 100007070 100007070 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:100007070G>C uc002tab.2 + 17 2834 c.2650G>C c.(2650-2652)GAA>CAA p.E884Q NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 884 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 GCGTTTGAAGGAAGGAGATAC 0.448 NaN 0 0 0 0.007835 0 33 105 SLC9A2 6549 broad.mit.edu 37 2 103322367 103322367 + Silent SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:103322367A>G uc002tca.2 + 11 2182 c.2040A>G c.(2038-2040)CTA>CTG p.L680L NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 680 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 CAGAAAAGCTACAAAAGAGGA 0.303 NaN 0 0 0 0.003163 0 13 30 ST6GAL2 84620 broad.mit.edu 37 2 107446552 107446552 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:107446552G>T uc002tdq.2 - 5 1407 c.1288C>A c.(1288-1290)CAA>AAA p.Q430K ST6GAL2_uc002tdr.2_Missense_Mutation_p.Q430K|ST6GAL2_uc002tds.3_Missense_Mutation_p.Q430K NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 430 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 GGGTTTGGTTGAATCTTCTCT 0.368 NaN 1 0 5.44703e-19 0.009718 6.17824e-19 40 126 RANBP2 5903 broad.mit.edu 37 2 109382668 109382668 + Silent SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:109382668C>A uc002tem.3 + 20 5799 c.5673C>A c.(5671-5673)ATC>ATA p.I1891I NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1891 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 GATTTTCCATCCCTGTGTCTG 0.378 NaN 1 0 2.27525e-19 0.003954 2.59584e-19 19 125 RANBP2 5903 broad.mit.edu 37 2 109383783 109383783 + Nonsense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:109383783C>G uc002tem.3 + 20 6914 c.6788C>G c.(6787-6789)TCA>TGA p.S2263* NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2263 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 TTTGGTGAGTCAACAACAGGA 0.418 NaN 0 0 0 0.01441 0 50 297 CLASP1 23332 broad.mit.edu 37 2 122182786 122182786 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:122182786G>A uc002tnc.2 - 22 2531 c.2141C>T c.(2140-2142)TCA>TTA p.S714L CLASP1_uc002tmz.2_5'UTR|CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.S722L|CLASP1_uc010yza.1_Missense_Mutation_p.S714L|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.S721L NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 714 Ser-rich.|Interaction with microtubules, MAPRE1 and MAPRE3. axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) TCGCTTTTCTGAAGACGGTGT 0.512 NaN 0 0 0 0.003271 0 31 68 CSRNP3 80034 broad.mit.edu 37 2 166514277 166514277 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:166514277C>G uc002udf.2 + 5 531 c.155C>G c.(154-156)TCC>TGC p.S52C CSRNP3_uc002udg.2_Missense_Mutation_p.S52C NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 52 Ser-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 TCAGCTTCCTCCATTCTCAAA 0.443 NaN 0 0 0 0.00874 0 31 85 LASS6 253782 broad.mit.edu 37 2 169313067 169313067 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:169313067G>T uc002ueb.1 + 1 233 c.109G>T c.(109-111)GAC>TAC p.D37Y LASS6_uc002uec.1_Missense_Mutation_p.D37Y NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN longevity assurance homolog 6 37 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity skin(1) 1 GCAGGCTGAGGACCTCTATCT 0.577 NaN 1 0 3.83957e-06 0.00278 4.00442e-06 19 59 GAD1 2571 broad.mit.edu 37 2 171702544 171702544 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:171702544G>C uc002ugi.2 + 10 1395 c.973G>C c.(973-975)GAG>CAG p.E325Q NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 325 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGCTGATTTTGAGGCAAAAAT 0.363 NaN 0 0 0 0.005443 0 22 105 SLC25A12 8604 broad.mit.edu 37 2 172691273 172691273 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:172691273G>C uc002uhh.2 - 7 804 c.715C>G c.(715-717)CTA>GTA p.L239V SLC25A12_uc010fqh.2_Missense_Mutation_p.L132V|SLC25A12_uc010zdv.1_RNA NM_003705 NP_003696 O75746 CMC1_HUMAN solute carrier family 25, member 12 239 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) GTGCCAGCTAGAGTGCTATAT 0.373 NaN 0 0 0 0.011902 0 34 105 NFE2L2 4780 broad.mit.edu 37 2 178097233 178097233 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:178097233G>C uc002ulh.3 - 4 1036 c.481C>G c.(481-483)CAG>GAG p.Q161E NFE2L2_uc002ulg.3_Missense_Mutation_p.Q145E|NFE2L2_uc010zfa.1_Missense_Mutation_p.Q138E|NFE2L2_uc002uli.3_Missense_Mutation_p.Q145E|NFE2L2_uc010fra.2_3'UTR NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 161 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) GACTGAGCCTGATTAGTAGCA 0.448 NaN Mis NSCLC|HNSCC HNSCC(56;0.16) 0 0 0 0.006214 0 9 56 ITGA4 3676 broad.mit.edu 37 2 182363467 182363467 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:182363467G>C uc002unu.2 + 15 2421 c.1658G>C c.(1657-1659)AGA>ACA p.R553T ITGA4_uc010frj.1_Missense_Mutation_p.R35T NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 553 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GTGTCCAGCAGAGAAGCTAAC 0.383 NaN 0 0 0 0.00278 0 18 79 MSTN 2660 broad.mit.edu 37 2 190924966 190924966 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:190924966C>T uc002urp.2 - 2 702 c.569G>A c.(568-570)CGA>CAA p.R190Q NM_005259 NP_005250 O14793 GDF8_HUMAN myostatin precursor 190 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TTTCAGAGATCGGATTCCAGT 0.428 NaN 0 0 0 0.01441 0 43 239 MSTN 2660 broad.mit.edu 37 2 190925004 190925004 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:190925004G>C uc002urp.2 - 2 664 c.531C>G c.(529-531)ATC>ATG p.I177M NM_005259 NP_005250 O14793 GDF8_HUMAN myostatin precursor 177 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TCATAGGTTTGATGAGTCTCA 0.413 NaN 0 0 0 0.013537 0 11 228 MSTN 2660 broad.mit.edu 37 2 190926953 190926953 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:190926953C>G uc002urp.2 - 1 503 c.370G>C c.(370-372)GAG>CAG p.E124Q NM_005259 NP_005250 O14793 GDF8_HUMAN myostatin precursor 124 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TACTTACACTCTGTAGGCATG 0.403 NaN 0 0 0 0.01441 0 44 218 MSTN 2660 broad.mit.edu 37 2 190927191 190927191 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:190927191C>A uc002urp.2 - 1 265 c.132G>T c.(130-132)TGG>TGT p.W44C NM_005259 NP_005250 O14793 GDF8_HUMAN myostatin precursor 44 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TGTTTTGTCTCCAAGTACATG 0.378 NaN 1 0 5.71845e-15 0.005524 6.3261e-15 29 202 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:207025358A>G uc002vbf.1 + 3 285 c.127A>G c.(127-129)AGC>GGC p.S43G NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.2_5'Flank NM_001037663 NP_001032752 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 AGCCGTGTCCAGCCCACCGCC 0.468 NaN 0 0 0 0.000602 0 5 248 ATIC 471 broad.mit.edu 37 2 216177324 216177324 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:216177324C>T uc002vex.3 + 2 297 c.123C>T c.(121-123)CTC>CTT p.L41L ATIC_uc010zjo.1_5'UTR|ATIC_uc002vey.3_Silent_p.L40L NM_004044 NP_004035 P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide 41 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1) 29 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) CAAAAGCTCTCAGGGATGCTG 0.428 NaN T ALK ALCL 0 0 0 0.00333 0 22 38 SLC23A3 151295 broad.mit.edu 37 2 220033453 220033453 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:220033453G>A uc010zks.1 - 5 706 c.595C>T c.(595-597)CCC>TCC p.P199S NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.P207S|SLC23A3_uc010fwb.2_Missense_Mutation_p.P199S|SLC23A3_uc002vjs.1_Missense_Mutation_p.S51F|SLC23A3_uc002vjt.1_Missense_Mutation_p.P57S NM_001144889 NP_001138361 Q6PIS1 S23A3_HUMAN solute carrier family 23 (nucleobase 199 Helical; (Potential). transmembrane transport integral to membrane protein binding|transporter activity 0 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCAGGCTGGGAGCCAGCACC 0.662 NaN 0 0 0 0.000602 0 4 15 SLC23A3 151295 broad.mit.edu 37 2 220034633 220034634 + Nonsense_Mutation DNP GG GG TA TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:220034633_220034634GG>TA uc010zks.1 - 1 184_185 c.73_74CC>TA c.(73-75)CCA>TAA p.P25* NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Nonsense_Mutation_p.P25*|SLC23A3_uc010fwb.2_Nonsense_Mutation_p.P25*|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'Flank NM_001144889 NP_001138361 Q6PIS1 S23A3_HUMAN solute carrier family 23 (nucleobase 25 Cytoplasmic (Potential). transmembrane transport integral to membrane protein binding|transporter activity 0 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGAGCAGGTGGAGGCAAGGGG 0.614 NaN 0 0 0 0.004672 0 4 35 TRIP12 9320 broad.mit.edu 37 2 230636274 230636274 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:230636274G>C uc002vpw.1 - 38 5653 c.5544C>G c.(5542-5544)GTC>GTG p.V1848V TRIP12_uc002vpx.1_Silent_p.V1896V|TRIP12_uc002vpy.1_Silent_p.V1578V NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1848 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TGAGTGGGAAGACTGATTCAA 0.378 NaN 0 0 0 0.001168 0 5 47 INPP5D 3635 broad.mit.edu 37 2 234079180 234079180 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:234079180G>A uc010zmo.1 + 15 1983 c.1830G>A c.(1828-1830)CAG>CAA p.Q610Q INPP5D_uc010zmp.1_Silent_p.Q609Q NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 610 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AGCAGCAGCAGTACGCAGACC 0.532 NaN 0 0 0 0.00278 0 18 36 TRIB3 57761 broad.mit.edu 37 20 376874 376874 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:376874C>T uc002wdm.2 + 4 1123 c.617C>T c.(616-618)TCC>TTC p.S206F TRIB3_uc002wdn.2_Missense_Mutation_p.S233F NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN tribbles 3 206 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity central_nervous_system(2) 2 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) CTGGAGGACTCCTGCGTGCTG 0.607 NaN 0 0 0 0.00245 0 12 57 RIN2 54453 broad.mit.edu 37 20 19977329 19977329 + Missense_Mutation SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:19977329A>G uc002wro.1 + 10 2243 c.2207A>G c.(2206-2208)TAT>TGT p.Y736C RIN2_uc010gcu.1_Missense_Mutation_p.Y303C|RIN2_uc010gcv.1_Missense_Mutation_p.Y530C NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 736 VPS9. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 TCAGGAGGCTATTACTTGACA 0.498 NaN 0 0 0 0.004007 0 15 44 KIF3B 9371 broad.mit.edu 37 20 30897849 30897849 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:30897849G>A uc002wxq.2 + 2 436 c.269G>A c.(268-270)GGA>GAA p.G90E KIF3B_uc010ztv.1_Missense_Mutation_p.G90E|KIF3B_uc010ztw.1_Missense_Mutation_p.G90E NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 90 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGTTTCAATGGAACCATTTTT 0.453 NaN 0 0 0 0.009718 0 35 78 C20orf70 140683 broad.mit.edu 37 20 31767433 31767433 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:31767433C>A uc002wyo.1 + 7 740 c.669C>A c.(667-669)TTC>TTA p.F223L NM_080574 NP_542141 Q96DR5 SPLC2_HUMAN chromosome 20 open reading frame 70 precursor 223 extracellular region lipid binding ovary(1)|central_nervous_system(1) 2 TCCGCATCTTCATCCACTCCC 0.527 NaN 1 0 5.02048e-33 0.01441 5.86561e-33 60 147 CBFA2T2 9139 broad.mit.edu 37 20 32217653 32217653 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:32217653G>A uc002wzg.1 + 9 1725 c.1188G>A c.(1186-1188)CTG>CTA p.L396L CBFA2T2_uc010zug.1_Silent_p.L170L|CBFA2T2_uc002wze.1_Silent_p.L387L|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.L367L|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA NM_005093 NP_005084 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 396 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1)|skin(1) 2 ACACAGAGCTGAGGAAAACGG 0.507 NaN 0 0 0 0.001168 0 5 34 SLC2A10 81031 broad.mit.edu 37 20 45354826 45354826 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:45354826C>T uc002xsl.2 + 2 1248 c.1151C>T c.(1150-1152)TCA>TTA p.S384L NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 384 Extracellular (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) GGAGACCCCTCAGCCCCTCCT 0.632 NaN 0 0 0 0.00245 0 12 57 TAF4 6874 broad.mit.edu 37 20 60575694 60575694 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:60575694G>A uc002ybs.2 - 10 2570 c.2570C>T c.(2569-2571)TCT>TTT p.S857F NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 857 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CACCAATTCAGAGTTCGTGGC 0.443 NaN 0 0 0 0.010771 0 40 52 LAMA5 3911 broad.mit.edu 37 20 60900379 60900379 + Nonsense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:60900379G>T uc002ycq.2 - 41 5589 c.5522C>A c.(5521-5523)TCA>TAA p.S1841* NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1841 Laminin EGF-like 16; second part. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACCTGGCATGAGTCCCCCCG 0.677 NaN 1 0 0.000978159 0.010729 0.00100754 9 15 DIDO1 11083 broad.mit.edu 37 20 61541311 61541311 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:61541311C>T uc002ydr.1 - 4 1165 c.901G>A c.(901-903)GAG>AAG p.E301K DIDO1_uc002yds.1_Missense_Mutation_p.E301K|DIDO1_uc002ydt.1_Missense_Mutation_p.E301K|DIDO1_uc002ydu.1_Missense_Mutation_p.E301K|DIDO1_uc002ydv.1_Missense_Mutation_p.E301K|DIDO1_uc002ydw.1_Missense_Mutation_p.E301K|DIDO1_uc002ydx.1_Missense_Mutation_p.E301K|DIDO1_uc011aao.1_Missense_Mutation_p.E301K NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 301 PHD-type. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CCTCGAGCCTCAGAAATGCCC 0.453 NaN 0 0 0 0.010818 0 25 63 ARFGAP1 55738 broad.mit.edu 37 20 61907473 61907473 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:61907473C>G uc002yem.2 + 3 203 c.91C>G c.(91-93)CAG>GAG p.Q31E ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Missense_Mutation_p.Q31E|ARFGAP1_uc002yen.2_Missense_Mutation_p.Q31E NM_018209 NP_060679 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating 31 C4-type.|Arf-GAP. COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding pancreas(1) 1 all_cancers(38;1.59e-09) GTTCAATCCTCAGTGGGTCAG 0.617 NaN 0 0 0 0.01441 0 85 154 COL20A1 57642 broad.mit.edu 37 20 61936830 61936830 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:61936830G>C uc011aau.1 + 4 355 c.255G>C c.(253-255)CTG>CTC p.L85L COL20A1_uc011aav.1_5'Flank NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 85 Fibronectin type-III 1. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) TGGGGGGCCTGAGCCCCTCCA 0.612 NaN 0 0 0 0.010729 0 8 11 N6AMT1 29104 broad.mit.edu 37 21 30255367 30255367 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:30255367G>A uc002ymo.1 - 2 187 c.161C>T c.(160-162)TCA>TTA p.S54L N6AMT1_uc002ymp.1_Missense_Mutation_p.S54L|N6AMT1_uc002ymq.1_RNA NM_013240 NP_037372 Q9Y5N5 HEMK2_HUMAN N-6 adenine-specific DNA methyltransferase 1 54 S-adenosyl-L-methionine binding (By similarity). positive regulation of cell growth protein complex nucleic acid binding|protein binding|protein methyltransferase activity 0 ACCAGACCCTGACCCTACTTC 0.368 NaN 0 0 0 0.004007 0 11 52 SOD1 6647 broad.mit.edu 37 21 33036175 33036175 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:33036175C>G uc002ypa.2 + 2 293 c.145C>G c.(145-147)CAT>GAT p.H49D SOD1_uc002ypb.2_Missense_Mutation_p.H30D|SOD1_uc002ypc.2_RNA NM_000454 NP_000445 P00441 SODC_HUMAN superoxide dismutase 1, soluble 49 Copper; catalytic. H -> Q (in ALS1).|H -> R (in ALS1). activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding 0 ATTCCATGTTCATGAGTTTGG 0.448 NaN 0 0 0 0.01441 0 37 140 SOD1 6647 broad.mit.edu 37 21 33039670 33039670 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:33039670C>T uc002ypa.2 + 4 487 c.339C>T c.(337-339)ATC>ATT p.I113I SOD1_uc002ypb.2_Silent_p.I94I|SOD1_uc002ypc.2_RNA NM_000454 NP_000445 P00441 SODC_HUMAN superoxide dismutase 1, soluble 113 I -> M (in ALS1).|I -> T (in ALS1). activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding 0 ACCATTGCATCATTGGCCGCA 0.428 NaN 0 0 0 0.007291 0 21 165 SON 6651 broad.mit.edu 37 21 34927106 34927106 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:34927106C>T uc002yse.1 + 3 5618 c.5569C>T c.(5569-5571)CAT>TAT p.H1857Y SON_uc002ysb.1_Missense_Mutation_p.H1857Y|SON_uc002ysc.2_Missense_Mutation_p.H1857Y|SON_uc002ysd.2_Missense_Mutation_p.H848Y|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.H848Y NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 1857 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 GTCCAAGTCTCATCGCTCTCA 0.448 NaN 0 0 0 0.005443 0 22 77 DOPEY2 9980 broad.mit.edu 37 21 37603182 37603182 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:37603182C>G uc002yvg.2 + 14 2179 c.2100C>G c.(2098-2100)TTC>TTG p.F700L DOPEY2_uc011aeb.1_Missense_Mutation_p.F700L NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 700 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 CAGACTTGTTCACAGCACGAG 0.542 NaN 0 0 0 0.004482 0 8 81 HLCS 3141 broad.mit.edu 37 21 38126702 38126702 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:38126702G>C uc010gnb.2 - 11 3227 c.2026C>G c.(2026-2028)CTG>GTG p.L676V HLCS_uc002yvs.2_Missense_Mutation_p.L676V NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 676 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) GCGCTGCCCAGATGGACTTGC 0.557 NaN 0 0 0 0.006122 0 12 41 TTC3 7267 broad.mit.edu 37 21 38463619 38463619 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:38463619G>C uc002yvz.2 + 7 612 c.507G>C c.(505-507)CTG>CTC p.L169L TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Silent_p.L169L|TTC3_uc002ywb.2_Silent_p.L169L|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.L169L NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 169 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) AAGAAGCTCTGAATTGGATAA 0.308 NaN 0 0 0 0.00245 0 11 68 BRWD1 54014 broad.mit.edu 37 21 40627734 40627734 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:40627734C>G uc002yxk.1 - 19 2231 c.2092G>C c.(2092-2094)GAC>CAC p.D698H BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.D698H|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.D151H|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_Intron|BRWD1_uc010goi.1_Missense_Mutation_p.D418H NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 698 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GACTGAATGTCTAAGCTCAGC 0.418 NaN 0 0 0 0.003163 0 14 65 C21orf29 54084 broad.mit.edu 37 21 45948429 45948429 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:45948429C>T uc002zfe.1 - 6 894 c.828G>A c.(826-828)CCG>CCA p.P276P C21orf29_uc010gpv.1_Silent_p.P208P NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 276 cell adhesion extracellular region structural molecule activity 0 CCTCGGTACACGGTGGCTGGG 0.577 NaN 0 0 0 0.005443 0 27 25 KRTAP12-4 386684 broad.mit.edu 37 21 46074247 46074247 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:46074247G>C uc002zfs.1 - 1 330 c.285C>G c.(283-285)TTC>TTG p.F95L C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198698 NP_941971 P60329 KR124_HUMAN keratin associated protein 12-4 95 15 X 5 AA approximate repeats.|14. keratin filament ovary(1) 1 GGGTGGGGCAGAAGGGCTGGC 0.632 NaN 0 0 0 0.001168 0 6 31 GNB1L 54584 broad.mit.edu 37 22 19808787 19808787 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:19808787C>G uc002zqe.1 - 2 486 c.92G>C c.(91-93)GGA>GCA p.G31A GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Missense_Mutation_p.G31A NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein 31 WD 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1) 1 Colorectal(54;0.0993) AGCCTGGGCTCCTTCGCAGAA 0.687 NaN 0 0 0 0.008871 0 18 71 SMARCB1 6598 broad.mit.edu 37 22 24175882 24175882 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:24175882G>T uc002zyb.2 + 8 1317 c.1110G>T c.(1108-1110)AGG>AGT p.R370S SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.R361S|SMARCB1_uc002zyd.2_Missense_Mutation_p.R379S NM_003073 NP_003064 Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin 370 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(2)|p.L266_*386del(1) soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1) 407 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) ACCAGGACAGGAACACGAGGT 0.622 NaN D|N|F|S malignant rhabdoid malignant rhabdoid Rhabdoid_Predisposition_syndrome|Schwannomatosis 1 0 1.15919e-05 0.008871 1.20464e-05 17 38 HSCB 150274 broad.mit.edu 37 22 29138168 29138168 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:29138168G>T uc003aea.2 + 1 126 c.85G>T c.(85-87)GAT>TAT p.D29Y CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adw.1_5'Flank|CHEK2_uc003adx.1_5'Flank|CHEK2_uc003ady.1_5'Flank|CHEK2_uc003adz.1_5'Flank NM_172002 NP_741999 Q8IWL3 HSC20_HUMAN J-type co-chaperone HSC20 precursor 29 iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1) 1 GCTAAGCTGCGATGCTGCGTC 0.682 NaN 1 0 0.00909568 0.009096 0.00928683 3 12 TBC1D10A 83874 broad.mit.edu 37 22 30722721 30722721 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:30722721G>T uc011akt.1 - 1 174 c.150C>A c.(148-150)TTC>TTA p.F50L TBC1D10A_uc010gvu.2_Missense_Mutation_p.F50L|TBC1D10A_uc003ahk.3_Missense_Mutation_p.F50L NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 50 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 GGCGCTCGGCGAAGCCGTTGG 0.711 NaN 1 0 2.41591e-17 0.004656 2.70861e-17 19 32 SEC14L3 266629 broad.mit.edu 37 22 30860840 30860840 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:30860840C>T uc003ahy.2 - 8 720 c.631G>A c.(631-633)GAG>AAG p.E211K SEC14L3_uc003ahz.2_Missense_Mutation_p.E134K|SEC14L3_uc003aia.2_Missense_Mutation_p.E152K|SEC14L3_uc003aib.2_Missense_Mutation_p.E152K NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN SEC14-like 3 211 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity ovary(3)|pancreas(1)|skin(1) 5 Vitamin E(DB00163) CGAGTGTCCTCACTCAGGAAT 0.448 NaN 0 0 0 0.01441 0 60 121 MAFF 23764 broad.mit.edu 37 22 38609853 38609853 + Translation_Start_Site SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:38609853C>A uc011anp.1 + 2 331 c.-7C>A c.(-9--5)TTCTG>TTATG MAFF_uc003avc.2_Translation_Start_Site|MAFF_uc011anq.1_Intron|MAFF_uc011anr.1_Translation_Start_Site|MAFF_uc003avd.2_Missense_Mutation_p.F47L NM_001161572 NP_001155044 Q9ULX9 MAFF_HUMAN transcription factor MAFF isoform a blood coagulation|parturition|transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Melanoma(58;0.045) AGGGCACCTTCTGCAAACATG 0.438 NaN 1 0 2.19962e-31 0.00874 2.56476e-31 33 69 TNRC6B 23112 broad.mit.edu 37 22 40661039 40661039 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:40661039C>G uc011aor.1 + 5 1016 c.805C>G c.(805-807)CAA>GAA p.Q269E TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.Q269E|TNRC6B_uc003ayo.2_Missense_Mutation_p.Q73E NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 269 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 TAAATCTGTTCAATCTTCCAA 0.453 NaN 0 0 0 0.00308 0 8 64 TNRC6B 23112 broad.mit.edu 37 22 40662821 40662821 + Nonsense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:40662821C>T uc011aor.1 + 5 2798 c.2587C>T c.(2587-2589)CAG>TAG p.Q863* TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.Q863*|TNRC6B_uc003ayo.2_Nonsense_Mutation_p.Q667* NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 863 Pro-rich. gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 CAGCGGGCCACAGCCTGCAAC 0.582 NaN 0 0 0 0.001984 0 6 23 CHKB 1120 broad.mit.edu 37 22 51019955 51019955 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:51019955G>A uc003bms.2 - 4 693 c.475C>T c.(475-477)CGA>TGA p.R159* CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Intron|CHKB-CPT1B_uc003bmu.2_Nonsense_Mutation_p.R38*|CHKB_uc003bmv.2_Nonsense_Mutation_p.R159*|LOC100144603_uc003bmw.3_5'Flank NM_005198 NP_005189 Q9Y259 CHKB_HUMAN choline kinase beta 159 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity 0 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) ACTGGCTCTCGAAGCTCTTGA 0.572 NaN 0 0 0 0.001855 0 11 35 RPUSD3 285367 broad.mit.edu 37 3 9885243 9885243 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:9885243G>C uc011atk.1 - 2 172 c.168C>G c.(166-168)CCC>CCG p.P56P ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Silent_p.P56P|RPUSD3_uc011atm.1_Silent_p.P48P|RPUSD3_uc003btn.2_Silent_p.P48P NM_173659 NP_775930 Q6P087 RUSD3_HUMAN RNA pseudouridylate synthase domain containing 3 56 pseudouridine synthesis pseudouridine synthase activity|RNA binding central_nervous_system(1) 1 Medulloblastoma(99;0.227) GGTCCCCGAGGGGCCCCGACC 0.657 NaN 0 0 0 0.013537 0 11 23 EFHB 151651 broad.mit.edu 37 3 19925987 19925987 + Missense_Mutation SNP C C T rs142916632 byFrequency TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:19925987C>T uc003cbl.3 - 11 2250 c.2054G>A c.(2053-2055)CGG>CAG p.R685Q EFHB_uc003cbm.2_Missense_Mutation_p.R555Q NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 685 R -> W (in Ref. 1; BAC85491). signal transduction proteinaceous extracellular matrix calcium ion binding 0 CAGAAGTGTCCGGAGAGTCTT 0.398 NaN 0 0 0 0.004007 0 13 32 NR1D2 9975 broad.mit.edu 37 3 24003672 24003672 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:24003672C>T uc003ccs.2 + 5 1041 c.722C>T c.(721-723)TCT>TTT p.S241F NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.S166F NM_005126 NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 241 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding urinary_tract(1)|kidney(1)|skin(1) 3 ATCAAAAGCTCTTCTCCTCCA 0.448 NaN 0 0 0 0.004007 0 14 32 NR1D2 9975 broad.mit.edu 37 3 24003755 24003755 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:24003755C>G uc003ccs.2 + 5 1124 c.805C>G c.(805-807)CAA>GAA p.Q269E NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.Q194E NM_005126 NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 269 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding urinary_tract(1)|kidney(1)|skin(1) 3 TATGTATAATCAAGAGCAGCA 0.423 NaN 0 0 0 0.00245 0 12 50 DLEC1 9940 broad.mit.edu 37 3 38136538 38136538 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:38136538C>A uc003cho.1 + 13 2109 c.2088C>A c.(2086-2088)TTC>TTA p.F696L DLEC1_uc003chp.1_Missense_Mutation_p.F696L|DLEC1_uc010hgv.1_Missense_Mutation_p.F696L|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Intron NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 696 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ACCACGAGTTCATCCTGAGCT 0.517 NaN 1 0 7.92952e-12 0.003954 8.54512e-12 15 61 DLEC1 9940 broad.mit.edu 37 3 38136557 38136557 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:38136557C>T uc003cho.1 + 13 2128 c.2107C>T c.(2107-2109)CAT>TAT p.H703Y DLEC1_uc003chp.1_Missense_Mutation_p.H703Y|DLEC1_uc010hgv.1_Missense_Mutation_p.H703Y|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Intron NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 703 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CTTTTCTCCTCATGAGGTTCA 0.527 NaN 0 0 0 0.008871 0 15 53 DLEC1 9940 broad.mit.edu 37 3 38138129 38138129 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:38138129G>A uc003cho.1 + 15 2262 c.2241G>A c.(2239-2241)GTG>GTA p.V747V DLEC1_uc003chp.1_Silent_p.V747V|DLEC1_uc010hgv.1_Silent_p.V747V|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_RNA NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 747 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AAATCGAGGTGAAAGGCTCAG 0.493 NaN 0 0 0 0.01441 0 43 77 TMEM89 440955 broad.mit.edu 37 3 48658340 48658340 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:48658340G>T uc011bbo.1 - 2 415 c.415C>A c.(415-417)CAC>AAC p.H139N NM_001008269 NP_001008270 A2RUT3 TMM89_HUMAN transmembrane protein 89 precursor 139 Cytoplasmic (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TGACGTAGGTGGCCTTCGATG 0.612 NaN 1 0 4.65686e-17 0.003755 5.20106e-17 35 86 CELSR3 1951 broad.mit.edu 37 3 48675652 48675652 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:48675652C>A uc003cul.2 - 35 10206 c.9925G>T c.(9925-9927)GAG>TAG p.E3309* CELSR3_uc003cuf.1_Intron|SLC26A6_uc003cuh.2_5'Flank|SLC26A6_uc010hke.2_5'Flank|SLC26A6_uc003cuk.2_5'Flank|SLC26A6_uc003cui.2_5'Flank|SLC26A6_uc003cuj.2_5'Flank|SLC26A6_uc011bbp.1_5'Flank|CELSR3_uc010hkf.2_Nonsense_Mutation_p.E599*|CELSR3_uc010hkg.2_Nonsense_Mutation_p.E1292* NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 3309 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GAGTGACCCTCACTTCTGGGA 0.607 NaN 1 0 6.00712e-18 0.012213 6.76091e-18 21 55 CELSR3 1951 broad.mit.edu 37 3 48694197 48694197 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:48694197G>C uc003cul.2 - 2 4614 c.4333C>G c.(4333-4335)CGC>GGC p.R1445G CELSR3_uc003cuf.1_Missense_Mutation_p.R1515G NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1445 Extracellular (Potential).|EGF-like 2; calcium-binding. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCGCCGTTGCGACATGGGTTG 0.711 NaN 0 0 0 0.004672 0 2 8 CELSR3 1951 broad.mit.edu 37 3 48698429 48698429 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:48698429C>T uc003cul.2 - 1 1920 c.1639G>A c.(1639-1641)GAG>AAG p.E547K CELSR3_uc003cuf.1_Missense_Mutation_p.E617K NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 547 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TAGCGCTTCTCGCTGAACTGA 0.652 NaN 0 0 0 0.00333 0 22 34 QRICH1 54870 broad.mit.edu 37 3 49094498 49094498 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49094498G>A uc010hkq.2 - 4 1431 c.1135C>T c.(1135-1137)CTT>TTT p.L379F QRICH1_uc003cvu.2_Missense_Mutation_p.L379F|QRICH1_uc003cvv.2_Missense_Mutation_p.L379F NM_198880 NP_942581 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 379 Gln-rich. ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GAGTTTGCAAGGGTCTGCACT 0.522 NaN 0 0 0 0.004656 0 24 55 KLHDC8B 200942 broad.mit.edu 37 3 49212384 49212384 + Missense_Mutation SNP T T G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49212384T>G uc003cwh.2 + 4 936 c.751T>G c.(751-753)TTT>GTT p.F251V KLHDC8B_uc003cwi.1_Missense_Mutation_p.F124V NM_173546 NP_775817 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 251 Kelch 6. cytoplasm 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGTGGAGATGTTTGACCTGGA 0.587 NaN 0 0 0 0.003163 0 12 82 USP4 7375 broad.mit.edu 37 3 49362149 49362149 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49362149C>G uc003cwq.2 - 6 760 c.681G>C c.(679-681)CAG>CAC p.Q227H USP4_uc003cwr.2_Missense_Mutation_p.Q227H NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 227 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) ACTGCAAGGTCTGCCTGGGCC 0.438 NaN 0 0 0 0.004007 0 13 90 USP4 7375 broad.mit.edu 37 3 49362462 49362462 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49362462C>A uc003cwq.2 - 5 577 c.498G>T c.(496-498)GAG>GAT p.E166D USP4_uc003cwr.2_Missense_Mutation_p.E166D NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 166 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GCATCTCTTTCTCGATGGTTG 0.478 NaN 1 0 3.73808e-20 0.005443 4.29843e-20 21 131 DAG1 1605 broad.mit.edu 37 3 49568599 49568599 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49568599G>A uc003cxc.3 + 3 1073 c.655G>A c.(655-657)GAA>AAA p.E219K NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 219 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GAGCTTCTCAGAAGTAGAGCT 0.488 NaN 0 0 0 0.00333 0 20 45 BSN 8927 broad.mit.edu 37 3 49691151 49691151 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49691151C>A uc003cxe.3 + 5 4276 c.4162C>A c.(4162-4164)CCT>ACT p.P1388T NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1388 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGCTGTGGCTCCTTGTCCAGC 0.622 NaN 1 0 4.3181e-19 0.013726 4.90731e-19 32 62 AMIGO3 386724 broad.mit.edu 37 3 49756782 49756782 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49756782G>C uc003cxj.2 - 1 457 c.117C>G c.(115-117)ATC>ATG p.I39M RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 39 Extracellular (Potential).|LRRNT. heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CGGCAGCGCAGATACATTTGT 0.652 NaN OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00333 0 17 144 GMPPB 29925 broad.mit.edu 37 3 49759447 49759447 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49759447G>A uc003cxk.1 - 8 1127 c.902C>T c.(901-903)TCC>TTC p.S301F AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.S301F NM_021971 NP_068806 Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B isoform 2 301 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CTCAAGCCAGGAATGGGAACG 0.667 NaN 0 0 0 0.006122 0 12 114 MST1R 4486 broad.mit.edu 37 3 49927421 49927421 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49927421C>G uc003cxy.3 - 19 4147 c.3883G>C c.(3883-3885)GAC>CAC p.D1295H MST1R_uc011bdc.1_Missense_Mutation_p.D174H NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1295 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGGGTAAGGTCAAAAGGGTCA 0.532 NaN 0 0 0 0.011902 0 35 82 PARP3 10039 broad.mit.edu 37 3 51979599 51979599 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:51979599G>T uc003dby.2 + 7 1321 c.950G>T c.(949-951)CGA>CTA p.R317L PARP3_uc003dbz.2_Missense_Mutation_p.R324L NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 317 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCCCTGGACCGAGACTACCAG 0.627 NaN 1 0 1.59932e-28 0.007835 1.85738e-28 32 61 FAM116A 201627 broad.mit.edu 37 3 57649368 57649368 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:57649368G>C uc003dja.2 - 5 579 c.508C>G c.(508-510)CAG>GAG p.Q170E NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 170 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) ATTACCTTCTGAAAGTAGCCT 0.289 NaN 0 0 0 0.003271 0 25 68 ADAMTS9 56999 broad.mit.edu 37 3 64607917 64607917 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:64607917C>A uc003dmg.2 - 18 2675 c.2643G>T c.(2641-2643)TGG>TGT p.W881C ADAMTS9_uc011bfo.1_Missense_Mutation_p.W853C|ADAMTS9_uc003dmh.1_Missense_Mutation_p.W710C|ADAMTS9_uc003dmk.1_Missense_Mutation_p.W881C NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 881 TSP type-1 2. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CATGACTGTTCCAGTAAAACT 0.393 NaN 1 0 1.57945e-13 0.011902 1.71795e-13 35 68 UBA3 9039 broad.mit.edu 37 3 69124658 69124658 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:69124658G>C uc003dno.2 - 4 207 c.187C>G c.(187-189)CTC>GTC p.L63V UBA3_uc003dnq.2_Missense_Mutation_p.L49V|UBA3_uc011bfy.1_5'UTR|UBA3_uc011bfz.1_Intron NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN ubiquitin-activating enzyme 3 isoform 1 63 Interaction with UBE2M N-terminus. protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) AAGAACTGGAGAGACTGTAAA 0.338 NaN 0 0 0 0.010504 0 16 39 FRMD4B 23150 broad.mit.edu 37 3 69246184 69246184 + Nonsense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:69246184G>C uc003dnv.2 - 13 1249 c.959C>G c.(958-960)TCA>TGA p.S320* FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_5'UTR|FRMD4B_uc011bga.1_Nonsense_Mutation_p.S164* NM_015123 NP_055938 Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 320 FERM. cytoplasm|cytoskeleton binding ovary(3)|central_nervous_system(1) 4 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) TCTTGAAACTGAAATCCTGAA 0.418 NaN 0 0 0 0.00499 0 13 19 EIF4E3 317649 broad.mit.edu 37 3 71743081 71743081 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:71743081C>G uc003dov.3 - 5 425 c.417G>C c.(415-417)TGG>TGC p.W139C EIF4E3_uc011bgc.1_Missense_Mutation_p.W33C|EIF4E3_uc003dox.2_Missense_Mutation_p.W33C|EIF4E3_uc011bgd.1_Missense_Mutation_p.W33C|EIF4E3_uc010hoc.2_Missense_Mutation_p.W33C NM_001134651 NP_001128123 Q8N5X7 IF4E3_HUMAN eukaryotic translation initiation factor 4E 139 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity 0 Prostate(10;0.0166) BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227) GCAACTCTTTCCAAACTGTGG 0.448 NaN 0 0 0 0.009096 0 3 10 OR5H1 26341 broad.mit.edu 37 3 97852160 97852160 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:97852160C>G uc011bgt.1 + 1 619 c.619C>G c.(619-621)CAG>GAG p.Q207E NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 AGGTTCAATTCAGGTATTCAG 0.313 NaN 0 0 0 0.001984 0 6 33 PHLDB2 90102 broad.mit.edu 37 3 111686606 111686606 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:111686606G>A uc010hqa.2 + 15 3661 c.3250G>A c.(3250-3252)GAA>AAA p.E1084K PHLDB2_uc003dyc.2_Missense_Mutation_p.E1068K|PHLDB2_uc003dyd.2_Missense_Mutation_p.E1041K|PHLDB2_uc003dyg.2_Missense_Mutation_p.E1084K|PHLDB2_uc003dyh.2_Missense_Mutation_p.E1041K|PHLDB2_uc003dyi.2_Missense_Mutation_p.E575K|PHLDB2_uc003dyj.2_Missense_Mutation_p.E139K NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 1084 Potential. cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 ATTACAGGAAGAAACTAGCCA 0.433 NaN OREG0015707 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001168 0 6 22 KIAA2018 205717 broad.mit.edu 37 3 113376375 113376375 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:113376375G>A uc003eam.2 - 7 4565 c.4154C>T c.(4153-4155)TCA>TTA p.S1385L KIAA2018_uc003eal.2_Missense_Mutation_p.S1329L NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1385 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 AGGCACAACTGAGTTTGAAGA 0.448 NaN 0 0 0 0.00245 0 13 53 ZBTB20 26137 broad.mit.edu 37 3 114070334 114070334 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:114070334C>T uc003ebi.2 - 4 771 c.591G>A c.(589-591)GTG>GTA p.V197V ZBTB20_uc003ebj.2_Silent_p.V124V|ZBTB20_uc010hqp.2_Silent_p.V124V|ZBTB20_uc003ebk.2_Silent_p.V124V|ZBTB20_uc003ebl.2_Silent_p.V124V|ZBTB20_uc003ebm.2_Silent_p.V124V|ZBTB20_uc003ebn.2_Silent_p.V124V|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) ACACATCGCCCACGTTCTGTG 0.652 NaN 0 0 0 0.010729 0 10 79 ACPP 55 broad.mit.edu 37 3 132068810 132068810 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:132068810G>C uc010htp.2 + 8 918 c.828G>C c.(826-828)CAG>CAC p.Q276H ACPP_uc003eon.3_Missense_Mutation_p.Q243H|ACPP_uc003eop.3_Missense_Mutation_p.Q276H NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 276 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 GAGCAACTCAGATACCAAGCT 0.299 NaN 0 0 0 0.006214 0 10 61 CEP63 80254 broad.mit.edu 37 3 134278032 134278032 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:134278032G>A uc003eqo.1 + 15 2163 c.1714G>A c.(1714-1716)GAG>AAG p.E572K CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 572 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 AATAAAGACTGAGCACTACAA 0.433 NaN 0 0 0 0.01441 0 56 103 DZIP1L 199221 broad.mit.edu 37 3 137822364 137822364 + Silent SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:137822364G>T uc003erq.2 - 2 813 c.450C>A c.(448-450)ATC>ATA p.I150I DZIP1L_uc003err.1_Silent_p.I150I NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 150 intracellular zinc ion binding ovary(1)|pancreas(1) 2 GCAGGGTGCTGATCATCTTGC 0.662 NaN 1 0 2.27111e-07 0.013537 2.39432e-07 12 26 SMC4 10051 broad.mit.edu 37 3 160148850 160148850 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:160148850C>T uc003fdh.2 + 20 3084 c.2971C>T c.(2971-2973)CGC>TGC p.R991C IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.R966C|SMC4_uc003fdj.2_Missense_Mutation_p.R991C|SMC4_uc010hwd.2_Intron|SMC4_uc003fdl.2_Missense_Mutation_p.R694C NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 991 Potential. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GAAAGAACATCGCAATCTGCT 0.333 NaN 0 0 0 0.014323 0 21 50 SAMD7 344658 broad.mit.edu 37 3 169654187 169654187 + Nonsense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:169654187C>T uc003fgd.2 + 8 1369 c.1102C>T c.(1102-1104)CGA>TGA p.R368* SAMD7_uc003fge.2_Nonsense_Mutation_p.R368*|SAMD7_uc011bpo.1_Nonsense_Mutation_p.R269* NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 368 SAM. skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AGAGCATCTTCGAGGCACTAT 0.353 NaN 0 0 0 0.008871 0 15 91 FETUB 26998 broad.mit.edu 37 3 186370280 186370280 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:186370280G>A uc010hyq.2 + 8 1270 c.1009G>A c.(1009-1011)GAA>AAA p.E337K FETUB_uc011brz.1_Missense_Mutation_p.E189K|FETUB_uc003fqn.2_Missense_Mutation_p.E337K|FETUB_uc003fqo.2_Missense_Mutation_p.E232K|FETUB_uc010hyr.2_Missense_Mutation_p.E300K|FETUB_uc010hys.2_Missense_Mutation_p.E189K|FETUB_uc003fqp.3_Missense_Mutation_p.E272K NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 337 extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) TCCCCAGGGAGAAACCCTGGA 0.522 NaN 0 0 0 0.012319 0 17 98 RFC4 5984 broad.mit.edu 37 3 186509528 186509528 + Missense_Mutation SNP T T C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:186509528T>C uc003fqz.2 - 8 1010 c.787A>G c.(787-789)ACA>GCA p.T263A RFC4_uc011bsc.1_Missense_Mutation_p.T263A|RFC4_uc011bsd.1_Missense_Mutation_p.T263A NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 263 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) GCAATGTCTGTAATCACTTTC 0.328 NaN 0 0 0 0.004672 0 3 126 TNIP2 79155 broad.mit.edu 37 4 2746230 2746230 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr4:2746230G>A uc003gfg.2 - 5 997 c.910C>T c.(910-912)CTC>TTC p.L304F TNIP2_uc003gff.2_Missense_Mutation_p.L197F|TNIP2_uc003gfh.2_Missense_Mutation_p.L221F NM_024309 NP_077285 Q8NFZ5 TNIP2_HUMAN A20-binding inhibitor of NF-kappaB activation 2 304 Potential. cytosol protein binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTGTAAGCGAGAATCTGAAGA 0.552 NaN 0 0 0 0.008361 0 23 44 RASL11B 65997 broad.mit.edu 37 4 53728708 53728708 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr4:53728708G>A uc003gzt.2 + 1 214 c.34G>A c.(34-36)GAG>AAG p.E12K NM_023940 NP_076429 Q9BPW5 RSLBB_HUMAN RAS-like family 11 member B 12 small GTPase mediated signal transduction membrane GTP binding|GTPase activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0302) CACCATCGCCGAGTACCCCGC 0.731 NaN 0 0 0 0.00308 0 7 25 PTPN13 5783 broad.mit.edu 37 4 87622590 87622590 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr4:87622590C>G uc003hpz.2 + 7 1311 c.831C>G c.(829-831)TTC>TTG p.F277L PTPN13_uc003hpy.2_Missense_Mutation_p.F277L|PTPN13_uc003hqa.2_Missense_Mutation_p.F277L|PTPN13_uc003hqb.2_Missense_Mutation_p.F277L NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 277 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CTTACCAGTTCAAAACTAGTG 0.393 NaN 0 0 0 0.004482 0 7 11 PALLD 23022 broad.mit.edu 37 4 169433469 169433469 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr4:169433469C>G uc011cjx.1 + 2 1025 c.814C>G c.(814-816)CGA>GGA p.R272G PALLD_uc003iru.2_Missense_Mutation_p.R272G NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 272 Ig-like C2-type 1. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) AGCTGCACCTCGATTCATCCA 0.567 NaN Pancreatic_Cancer_Familial_Clustering_of 0 0 0 0.001168 0 4 41 SLC6A18 348932 broad.mit.edu 37 5 1245984 1245984 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:1245984G>C uc003jby.1 + 12 1801 c.1678G>C c.(1678-1680)GAG>CAG p.E560Q NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 560 Extracellular (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTCGCGTCAGGAGAAGCTCTA 0.706 NaN 0 0 0 0.001168 0 5 34 CCT5 22948 broad.mit.edu 37 5 10258507 10258507 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:10258507G>A uc003jeq.2 + 6 904 c.733G>A c.(733-735)GAT>AAT p.D245N CCT5_uc011cmq.1_Missense_Mutation_p.D92N|CCT5_uc003jer.2_Missense_Mutation_p.D245N|CCT5_uc010its.2_Missense_Mutation_p.D245N|CCT5_uc011cmr.1_Missense_Mutation_p.D190N|CCT5_uc011cms.1_Missense_Mutation_p.D207N|CCT5_uc011cmt.1_Missense_Mutation_p.D152N NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 245 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 GAAAGTGGAAGATGCGAAGAT 0.408 NaN 0 0 0 0.010504 0 17 109 DNAH5 1767 broad.mit.edu 37 5 13708301 13708301 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:13708301G>A uc003jfd.2 - 76 13311 c.13269C>T c.(13267-13269)ATC>ATT p.I4423I DNAH5_uc003jfc.2_Silent_p.I591I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4423 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTTCGCTCATGATGATGGTGC 0.458 NaN Kartagener_syndrome 0 0 0 0.01441 0 73 198 UGT3A1 133688 broad.mit.edu 37 5 35965895 35965895 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:35965895C>T uc003jjv.1 - 4 593 c.436G>A c.(436-438)GCA>ACA p.A146T UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.A146T|UGT3A1_uc011cor.1_Missense_Mutation_p.A112T|UGT3A1_uc003jjy.1_Missense_Mutation_p.A92T NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 146 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAATCAAATGCTTCAACAAAT 0.383 NaN 0 0 0 0.003954 0 21 36 RICTOR 253260 broad.mit.edu 37 5 38952313 38952313 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:38952313C>A uc003jlp.2 - 30 3136 c.3112G>T c.(3112-3114)GAA>TAA p.E1038* RICTOR_uc003jlo.2_Nonsense_Mutation_p.E1038*|RICTOR_uc010ivf.2_Nonsense_Mutation_p.E753* NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1038 Ser-rich. actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) GGCACAGATTCACTTTCACTA 0.343 NaN 1 0 1.1804e-14 0.003954 1.30089e-14 21 23 PPAP2A 8611 broad.mit.edu 37 5 54721117 54721117 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:54721117C>G uc003jqa.2 - 6 1188 c.772G>C c.(772-774)GAA>CAA p.E258Q SKIV2L2_uc003jpy.3_3'UTR|SKIV2L2_uc011cqi.1_3'UTR|PPAP2A_uc003jpz.2_Missense_Mutation_p.E259Q|PPAP2A_uc003jqb.2_RNA NM_003711 NP_003702 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A isoform 1 258 Cytoplasmic (Potential). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity ovary(2) 2 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) TCTTTTCTTTCTTTAAAAGAA 0.378 NaN 0 0 0 0.00308 0 6 39 PPAP2A 8611 broad.mit.edu 37 5 54721830 54721830 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:54721830C>G uc003jqa.2 - 5 1003 c.587G>C c.(586-588)AGA>ACA p.R196T PPAP2A_uc003jpz.2_Missense_Mutation_p.R197T|PPAP2A_uc003jqb.2_RNA NM_003711 NP_003702 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A isoform 1 196 Cytoplasmic (Potential). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity ovary(2) 2 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) GCGTAAGAGTCTTGCCCAGTC 0.378 NaN 0 0 0 0.001855 0 11 55 PPAP2A 8611 broad.mit.edu 37 5 54737722 54737722 + Nonsense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:54737722G>C uc003jqa.2 - 4 922 c.506C>G c.(505-507)TCA>TGA p.S169* PPAP2A_uc003jpz.2_Nonsense_Mutation_p.S170*|PPAP2A_uc003jqb.2_RNA NM_003711 NP_003702 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A isoform 1 169 Helical; (Potential). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity ovary(2) 2 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) AGAGTGGCCTGAATAGAAGGA 0.393 NaN 0 0 0 0.008361 0 26 45 CHD1 1105 broad.mit.edu 37 5 98215419 98215419 + Nonsense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:98215419G>C uc003knf.2 - 22 3222 c.3074C>G c.(3073-3075)TCA>TGA p.S1025* NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1025 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ATCCATATTTGAGAAGTTGGC 0.343 NaN 0 0 0 0.009096 0 3 10 WDR36 134430 broad.mit.edu 37 5 110428137 110428137 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:110428137G>C uc003kpd.2 + 1 268 c.151G>C c.(151-153)GCT>CCT p.A51P WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 51 response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GCTGAGAGGAGCTGGGATCGC 0.602 NaN 0 0 0 0.008291 0 7 48 SRP19 6728 broad.mit.edu 37 5 112227372 112227372 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:112227372G>C uc011cvv.1 + 4 366 c.111G>C c.(109-111)AAG>AAC p.K37N SRP19_uc011cvu.1_Missense_Mutation_p.K22N|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron P09132 SRP19_HUMAN SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2; Error:Variant_position_missing_in_P09132_after_alignment response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding 0 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) TTCCCAAGAAGATGACATTTC 0.473 NaN 0 0 0 0.009096 0 4 11 PHF15 23338 broad.mit.edu 37 5 133914845 133914845 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:133914845G>A uc003kzo.1 + 11 2390 c.2211G>A c.(2209-2211)GAG>GAA p.E737E PHF15_uc011cxt.1_Silent_p.E781E|PHF15_uc003kzk.2_Silent_p.E797E|PHF15_uc003kzm.2_Silent_p.E738E|PHF15_uc003kzn.2_3'UTR NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 737 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGTGGCTGAGAGGCCCAAGG 0.622 NaN 0 0 0 0.008291 0 9 62 SEC24A 10802 broad.mit.edu 37 5 134029515 134029515 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:134029515G>A uc003kzs.2 + 13 2166 c.1878G>A c.(1876-1878)CTG>CTA p.L626L SEC24A_uc011cxu.1_Silent_p.L390L NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 626 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTTTAAGCTGATGTCTCCAA 0.498 NaN 0 0 0 0.006214 0 9 48 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139916980 139916980 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:139916980C>G uc003lfs.1 + 31 7158 c.7034C>G c.(7033-7035)TCT>TGT p.S2345C ANKHD1_uc003lfr.2_Missense_Mutation_p.S2345C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S1101C|ANKHD1_uc003lfw.2_Missense_Mutation_p.S1000C|ANKHD1_uc010jfl.2_Missense_Mutation_p.S721C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.S499C NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 2345 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGCCACTTCTGCCCCACCA 0.453 NaN 0 0 0 0.010818 0 25 91 APBB3 10307 broad.mit.edu 37 5 139941016 139941016 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:139941016C>A uc003lgd.1 - 8 1140 c.781G>T c.(781-783)GAG>TAG p.E261* APBB3_uc003lgb.1_Nonsense_Mutation_p.E33*|APBB3_uc003lgc.1_Nonsense_Mutation_p.E33*|APBB3_uc003lge.1_Nonsense_Mutation_p.E254*|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Nonsense_Mutation_p.E33*|APBB3_uc010jfq.1_Nonsense_Mutation_p.E33* NM_133172 NP_573418 O95704 APBB3_HUMAN amyloid beta precursor protein-binding, family 256 PID 1. actin cytoskeleton|cytoplasm ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACTGACCTCTACTCGCTCT 0.547 NaN 1 0 8.24728e-16 0.004656 9.17589e-16 23 141 PCDHA12 56137 broad.mit.edu 37 5 140257094 140257094 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:140257094G>A uc003lic.2 + 1 2164 c.2037G>A c.(2035-2037)TCG>TCA p.S679S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.S679S NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 679 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAAGACGTCGTCGCGGGCCT 0.657 NaN 0 0 0 0.004672 0 3 37 PCDHGA10 56106 broad.mit.edu 37 5 140795020 140795020 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:140795020G>A uc003lkl.1 + 1 2278 c.2278G>A c.(2278-2280)GAG>AAG p.E760K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.E760K|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 760 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATTCCCACGAGGTCTCTCT 0.602 NaN 0 0 0 0.01441 0 56 107 PCDH12 51294 broad.mit.edu 37 5 141334867 141334867 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:141334867G>C uc003llx.2 - 1 3761 c.2550C>G c.(2548-2550)TTC>TTG p.F850L NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 850 Cytoplasmic (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGATGGTTGAAAAGGAGGT 0.627 NaN 0 0 0 0.014323 0 18 70 PCDH12 51294 broad.mit.edu 37 5 141336269 141336269 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:141336269G>A uc003llx.2 - 1 2359 c.1148C>T c.(1147-1149)TCA>TTA p.S383L NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 383 Cadherin 4.|Extracellular (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGTGTCCTGAATCCAAGTC 0.507 NaN 0 0 0 0.00278 0 20 94 SLC36A3 285641 broad.mit.edu 37 5 150675819 150675819 + Missense_Mutation SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:150675819A>G uc003ltw.2 - 3 649 c.230T>C c.(229-231)GTC>GCC p.V77A GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Missense_Mutation_p.V21A|SLC36A3_uc003ltx.2_Missense_Mutation_p.V77A NM_181774 NP_861439 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 isoform 2 77 Helical; (Potential). integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGAAGGCTGACAGGACCGAC 0.597 NaN 0 0 0 0.00308 0 7 30 NOP16 51491 broad.mit.edu 37 5 175811345 175811345 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:175811345G>C uc011dfl.1 - 5 424 c.424C>G c.(424-426)CAA>GAA p.Q142E NOP16_uc003med.2_Intron|NOP16_uc003mee.2_Intron NM_016391 NP_057475 Q9Y3C1 NOP16_HUMAN NOP16 nucleolar protein homolog 142 nucleolus ovary(1)|central_nervous_system(1) 2 GGGGTATCTTGATAGTAATTC 0.448 NaN 0 0 0 0.001168 0 6 45 GPLD1 2822 broad.mit.edu 37 6 24486344 24486344 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:24486344C>T uc003ned.1 - 2 223 c.112G>A c.(112-114)GAG>AAG p.E38K GPLD1_uc010jps.1_Missense_Mutation_p.E38K|GPLD1_uc003nee.2_Missense_Mutation_p.E38K NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 38 extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 TGAAGAAACTCCAGAGCTCTG 0.323 NaN 0 0 0 0.009535 0 20 129 HIST1H1C 3006 broad.mit.edu 37 6 26056443 26056443 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:26056443C>G uc003nfw.2 - 1 257 c.214G>C c.(214-216)GAT>CAT p.D72H NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 72 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 TTCTCCACATCATAGCCGGCG 0.557 NaN 0 0 0 0.010504 0 18 87 HIST1H1T 3010 broad.mit.edu 37 6 26108038 26108038 + Missense_Mutation SNP C C A rs147905742 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:26108038C>A uc003ngj.2 - 1 327 c.284G>T c.(283-285)GGA>GTA p.G95V NM_005323 NP_005314 P22492 H1T_HUMAN histone cluster 1, H1t 95 H15. cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding ovary(2) 2 CACCAGGATTCCCTTGTTCAC 0.478 NaN 1 0 1.17739e-12 0.005443 1.27825e-12 23 55 HIST1H2AG 8969 broad.mit.edu 37 6 27100906 27100906 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:27100906C>T uc003niw.2 + 1 90 c.56C>T c.(55-57)TCT>TTT p.S19F HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 19 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 AAGACTCGCTCTTCTAGGGCC 0.642 NaN 0 0 0 0.00632 0 24 34 HIST1H2AK 8330 broad.mit.edu 37 6 27805994 27805994 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:27805994C>T uc003njs.2 - 1 124 c.124G>A c.(124-126)GAG>AAG p.E42K HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank NM_003510 NP_003501 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 42 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding upper_aerodigestive_tract(1) 1 CCGACCCGCTCAGCGTAGTTG 0.657 NaN 0 0 0 0.00245 0 12 38 DDR1 780 broad.mit.edu 37 6 30865172 30865172 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:30865172G>C uc003nrr.2 + 16 2273 c.2014G>C c.(2014-2016)GAG>CAG p.E672Q DDR1_uc010jse.2_Missense_Mutation_p.E635Q|DDR1_uc003nrq.2_Missense_Mutation_p.E635Q|DDR1_uc003nrs.2_Missense_Mutation_p.E672Q|DDR1_uc003nrt.2_Missense_Mutation_p.E635Q|DDR1_uc011dms.1_Missense_Mutation_p.E653Q|DDR1_uc003nru.2_Missense_Mutation_p.E635Q|DDR1_uc003nrv.2_Missense_Mutation_p.E678Q|DDR1_uc003nrw.1_Missense_Mutation_p.E407Q|DDR1_uc003nrz.1_5'UTR NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 672 Cytoplasmic (Potential).|Protein kinase. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) TTTCCTGAAAGAGGTGAAGAT 0.587 NaN 0 0 0 0.010504 0 16 58 MICA 4276 broad.mit.edu 37 6 31382788 31382788 + Splice_Site SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:31382788G>A uc003ntk.1 + 7 1064 c.1025_splice c.e7-1 RecName: Full=MHC class I polypeptide-related sequence A; Short=MIC-A; Flags: Precursor; 0 Ovarian(999;0.0253) CTTTTCTCCAGAGCTCGTGAG 0.522 NaN 0 0 0 0.010729 0 9 73 CSNK2B 1460 broad.mit.edu 37 6 31635728 31635728 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:31635728G>T uc003nvr.1 + 3 496 c.156G>T c.(154-156)ATG>ATT p.M52I BAT4_uc003nvn.2_5'Flank|BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_Missense_Mutation_p.M52I|CSNK2B_uc003nvs.1_Missense_Mutation_p.M52I|LY6G5B_uc003nvt.1_5'Flank NM_001320 NP_001311 P67870 CSK2B_HUMAN casein kinase 2, beta polypeptide 52 adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway cytosol|nucleus|protein kinase CK2 complex identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding 0 CTCTAGACATGATCTTGGACC 0.458 NaN 1 0 0.00185496 0.001855 0.0019073 8 55 BAT5 7920 broad.mit.edu 37 6 31657862 31657862 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:31657862C>T uc003nvy.1 - 11 980 c.950G>A c.(949-951)GGA>GAA p.G317E BAT5_uc003nvx.1_Missense_Mutation_p.G98E|BAT5_uc011dny.1_Missense_Mutation_p.G284E|BAT5_uc003nvz.1_Missense_Mutation_p.G98E|BAT5_uc011dnz.1_Missense_Mutation_p.G98E|BAT5_uc010jtc.1_RNA NM_021160 NP_066983 O95870 ABHGA_HUMAN HLA-B associated transcript 5 317 integral to membrane hydrolase activity|protein binding 0 CACCGTGCTTCCAGCAAAGCC 0.542 NaN 0 0 0 0.013537 0 8 59 PTK7 5754 broad.mit.edu 37 6 43096807 43096807 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:43096807C>G uc003oub.1 + 2 370 c.172C>G c.(172-174)CCG>GCG p.P58A PTK7_uc003ouc.1_Missense_Mutation_p.P58A|PTK7_uc003oud.1_Missense_Mutation_p.P58A|PTK7_uc003oue.1_Missense_Mutation_p.P58A|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.P66A|PTK7_uc003oua.2_Missense_Mutation_p.P58A NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 58 Ig-like C2-type 1.|Extracellular (Potential). actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GGTTGAGGCTCCGGGCCCGGT 0.642 NaN 0 0 0 0.004007 0 11 16 XPO5 57510 broad.mit.edu 37 6 43516011 43516011 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:43516011G>A uc003ovp.2 - 18 2258 c.2047C>T c.(2047-2049)CAA>TAA p.Q683* NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 683 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) TGCATGTCTTGAGAAAGCCAG 0.502 NaN 0 0 0 0.005443 0 22 94 OPN5 221391 broad.mit.edu 37 6 47775996 47775996 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:47775996C>T uc003ozc.2 + 5 868 c.863C>T c.(862-864)TCT>TTT p.S288F OPN5_uc003ozd.2_Missense_Mutation_p.S123F NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 288 Extracellular (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 ATACAGCTCTCTGTGGTGCCA 0.453 NaN 0 0 0 0.009535 0 25 130 PHF3 23469 broad.mit.edu 37 6 64390047 64390047 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:64390047C>T uc003pep.1 + 2 417 c.391C>T c.(391-393)CGT>TGT p.R131C PHF3_uc010kaf.1_Missense_Mutation_p.R131C|PHF3_uc003pem.2_Missense_Mutation_p.R84C|PHF3_uc010kag.1_Missense_Mutation_p.R43C|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.R43C|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.R131C NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 131 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAAATCACCTCGTTTAATGGC 0.383 NaN 0 0 0 0.012319 0 18 93 IBTK 25998 broad.mit.edu 37 6 82927697 82927697 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:82927697C>G uc003pjl.1 - 10 1933 c.1406G>C c.(1405-1407)AGA>ACA p.R469T IBTK_uc011dyv.1_Missense_Mutation_p.R469T|IBTK_uc011dyw.1_Missense_Mutation_p.R469T|IBTK_uc010kbi.1_Missense_Mutation_p.R163T|IBTK_uc003pjm.2_Missense_Mutation_p.R469T NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 469 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) AGAACTCTTTCTTTTCTCTTC 0.318 NaN 0 0 0 0.008291 0 9 29 SLC35F1 222553 broad.mit.edu 37 6 118588187 118588187 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:118588187G>A uc003pxx.3 + 4 708 c.507G>A c.(505-507)GTG>GTA p.V169V SLC35F1_uc003pxy.1_5'UTR NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 169 Helical; (Potential). transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) TCCCAGTCGTGATTTTGCTCT 0.502 NaN 0 0 0 0.01441 0 56 332 MYB 4602 broad.mit.edu 37 6 135511379 135511379 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:135511379G>C uc003qfc.2 + 5 620 c.421G>C c.(421-423)GAA>CAA p.E141Q MYB_uc003qfh.2_Missense_Mutation_p.E141Q|MYB_uc003qfi.2_Missense_Mutation_p.E141Q|MYB_uc010kgi.2_Missense_Mutation_p.E141Q|MYB_uc003qfq.2_Missense_Mutation_p.E141Q|MYB_uc010kgj.2_Missense_Mutation_p.E141Q|MYB_uc003qfo.2_Missense_Mutation_p.E141Q|MYB_uc003qfu.2_Missense_Mutation_p.E141Q|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Intron|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Intron|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.E141Q|MYB_uc003qgd.1_5'UTR NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 141 HTH myb-type 2.|Interaction with HIPK2 and NLK (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) CTTGAATCCAGAAGTTAAGAA 0.453 NaN T NFIB adenoid cystic carcinoma 0 0 0 0.006214 0 9 53 MYB 4602 broad.mit.edu 37 6 135539063 135539063 + Missense_Mutation SNP C C T rs148508251 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:135539063C>T uc003qfc.2 + 15 2067 c.1868C>T c.(1867-1869)TCC>TTC p.S623F MYB_uc003qfh.2_Missense_Mutation_p.S744F|MYB_uc003qfi.2_Missense_Mutation_p.S728F|MYB_uc010kgi.2_Missense_Mutation_p.S586F|MYB_uc003qfq.2_Missense_Mutation_p.S741F|MYB_uc010kgj.2_Missense_Mutation_p.S588F|MYB_uc003qfo.2_Missense_Mutation_p.S538F|MYB_uc003qfu.2_Missense_Mutation_p.S620F|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Missense_Mutation_p.S249F|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.S435F|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 623 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) ATGACATCTTCCAGTCAAGCT 0.478 NaN T NFIB adenoid cystic carcinoma 0 0 0 0.008291 0 10 69 SYNE1 23345 broad.mit.edu 37 6 152631862 152631862 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:152631862C>G uc010kiw.2 - 88 17459 c.16857G>C c.(16855-16857)ATG>ATC p.M5619I SYNE1_uc010kiv.2_Missense_Mutation_p.M143I|SYNE1_uc003qos.3_Missense_Mutation_p.M143I|SYNE1_uc003qot.3_Missense_Mutation_p.M5548I|SYNE1_uc003qou.3_Missense_Mutation_p.M5619I NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5619 Spectrin 17.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAATTTTGATCATCTGTCGCA 0.363 NaN HNSCC(10;0.0054) 0 0 0 0.007413 0 15 23 SYNE1 23345 broad.mit.edu 37 6 152740829 152740829 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:152740829C>G uc010kiw.2 - 40 5898 c.5296G>C c.(5296-5298)GAA>CAA p.E1766Q SYNE1_uc003qot.3_Missense_Mutation_p.E1773Q|SYNE1_uc003qou.3_Missense_Mutation_p.E1766Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E1749Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1766 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGCTGGTGTTCAGCAACCACA 0.348 NaN HNSCC(10;0.0054) 0 0 0 0.00499 0 11 42 MAP3K4 4216 broad.mit.edu 37 6 161527697 161527697 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:161527697G>C uc003qtn.2 + 20 4150 c.4008G>C c.(4006-4008)TTG>TTC p.L1336F MAP3K4_uc010kkc.1_Missense_Mutation_p.L1332F|MAP3K4_uc003qto.2_Missense_Mutation_p.L1286F|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.L789F|MAP3K4_uc003qtp.2_Missense_Mutation_p.L272F|MAP3K4_uc003qtq.2_Missense_Mutation_p.L25F NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1336 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) ACGTTGGCTTGAGGAAGGTGA 0.378 NaN 0 0 0 0.01441 0 38 50 C7orf27 221927 broad.mit.edu 37 7 2579517 2579517 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:2579517C>G uc003smi.2 - 11 1443 c.1401G>C c.(1399-1401)CTG>CTC p.L467L C7orf27_uc003smh.3_5'UTR NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN hypothetical protein LOC221927 precursor 467 response to ionizing radiation nucleus protein binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;2.91e-14) AGGCCTTCTTCAGAACCTGGA 0.652 NaN 0 0 0 0.001168 0 4 5 EIF2AK1 27102 broad.mit.edu 37 7 6098634 6098634 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:6098634G>C uc003spp.2 - 1 227 c.81C>G c.(79-81)ATC>ATG p.I27M EIF2AK1_uc003spq.2_Missense_Mutation_p.I27M|EIF2AK1_uc011jwm.1_Translation_Start_Site NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 27 PPAIDFPAE -> RRHRLSRR (in Ref. 1; AAF70289). negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) CGGGAAAGTCGATGGCCGGCG 0.642 NaN 0 0 0 0.009096 0 3 6 MPP6 51678 broad.mit.edu 37 7 24705264 24705264 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:24705264G>C uc003swx.2 + 8 1140 c.841G>C c.(841-843)GAG>CAG p.E281Q MPP6_uc003swy.2_Missense_Mutation_p.E281Q|MPP6_uc010kur.2_5'Flank NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 281 SH3. protein complex assembly protein binding 0 GTTCCTGGAAGAGAAGAGAAA 0.423 NaN 0 0 0 0.003163 0 12 64 CREB5 9586 broad.mit.edu 37 7 28534602 28534602 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:28534602G>C uc003szq.2 + 3 544 c.154G>C c.(154-156)GAC>CAC p.D52H CREB5_uc003szo.2_Missense_Mutation_p.D19H|CREB5_uc003szr.2_Missense_Mutation_p.D45H NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 52 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 AATAAAAACAGACAATATGTT 0.408 NaN 0 0 0 0.003954 0 23 42 PLEKHA8 84725 broad.mit.edu 37 7 30102287 30102287 + Splice_Site SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:30102287G>C uc003tam.1 + 12 1321 c.1230_splice c.e12-1 p.R410_splice PLEKHA8_uc003tao.2_Splice_Site_p.R294_splice|PLEKHA8_uc003tap.1_Splice_Site_p.R410_splice|PLEKHA8_uc003tan.2_Splice_Site_p.R410_splice NM_032639 NP_116028 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(3)|ovary(1) 4 TTTTGTTTTAGAGGTCTCAAA 0.328 NaN 0 0 0 0.013537 0 11 39 BBS9 27241 broad.mit.edu 37 7 33185904 33185904 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:33185904C>G uc003tdn.1 + 2 553 c.40C>G c.(40-42)CTG>GTG p.L14V BBS9_uc003tdo.1_Missense_Mutation_p.L14V|BBS9_uc003tdp.1_Missense_Mutation_p.L14V|BBS9_uc003tdq.1_Missense_Mutation_p.L14V|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.L14V NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 14 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) GTCTACTATTCTGGGAGATAA 0.333 NaN Bardet-Biedl_syndrome 0 0 0 0.009718 0 36 100 ADCY1 107 broad.mit.edu 37 7 45743204 45743204 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:45743204C>G uc003tne.3 + 16 2595 c.2577C>G c.(2575-2577)CTC>CTG p.L859L NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 859 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TCCAGGACCTCTACTACCAGT 0.582 NaN 0 0 0 0.003954 0 24 70 ZNF479 90827 broad.mit.edu 37 7 57188109 57188109 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:57188109G>A uc010kzo.2 - 5 1284 c.1013C>T c.(1012-1014)TCA>TTA p.S338L NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 338 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) AGTAAGGTTTGAGGACCAGCT 0.453 NaN 0 0 0 0.004007 0 10 42 HGF 3082 broad.mit.edu 37 7 81346648 81346648 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:81346648C>G uc003uhl.2 - 11 1470 c.1305G>C c.(1303-1305)CTG>CTC p.L435L HGF_uc003uhm.2_Silent_p.L430L NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 435 Kringle 4. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 AATTCTCATTCAGCTTACTTG 0.438 NaN 0 0 0 0.01441 0 43 87 PEX1 5189 broad.mit.edu 37 7 92143172 92143172 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:92143172C>G uc003uly.2 - 6 1445 c.1349G>C c.(1348-1350)AGA>ACA p.R450T PEX1_uc011khr.1_Missense_Mutation_p.R242T|PEX1_uc010ley.2_Missense_Mutation_p.R450T|PEX1_uc011khs.1_Missense_Mutation_p.R128T|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 450 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TAAATTCTCTCTAGGTTGTAA 0.328 NaN 0 0 0 0.013726 0 29 77 ZNF394 84124 broad.mit.edu 37 7 99091818 99091818 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:99091818G>T uc003uqs.2 - 3 1181 c.1020C>A c.(1018-1020)TTC>TTA p.F340L ZNF394_uc003uqt.2_Missense_Mutation_p.F133L NM_032164 NP_115540 Q53GI3 ZN394_HUMAN zinc finger protein 394 340 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TGGAATGATGGAAACTGTCTC 0.483 NaN 1 0 9.78485e-24 0.013726 1.13186e-23 31 88 MUC17 140453 broad.mit.edu 37 7 100679360 100679360 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:100679360C>G uc003uxp.1 + 3 4716 c.4663C>G c.(4663-4665)CCT>GCT p.P1555A MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1555 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|24. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CAGTTCATCTCCTACAACTGC 0.493 NaN 0 0 0 0.01441 0 70 437 MUC17 140453 broad.mit.edu 37 7 100679868 100679868 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:100679868C>G uc003uxp.1 + 3 5224 c.5171C>G c.(5170-5172)TCT>TGT p.S1724C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1724 Extracellular (Potential).|59 X approximate tandem repeats.|27.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GTGACCACTTCTACTGAAGCC 0.478 NaN 0 0 0 0.01441 0 79 512 CUX1 1523 broad.mit.edu 37 7 101923386 101923386 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:101923386G>C uc003uyt.2 + 19 1757 c.1738G>C c.(1738-1740)GAC>CAC p.D580H CUX1_uc011kkn.1_Missense_Mutation_p.D541H|CUX1_uc003uyw.2_Missense_Mutation_p.D534H|CUX1_uc003uyv.2_Missense_Mutation_p.D564H|CUX1_uc003uyu.2_Missense_Mutation_p.D578H|CUX1_uc003uyz.2_RNA NM_001913 NP_001904 P39880 CUX1_HUMAN cut-like homeobox 1 isoform b Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GGAGCGCCTGGACCCCTTCTC 0.662 NaN 0 0 0 0.004656 0 22 56 KCND2 3751 broad.mit.edu 37 7 120385895 120385895 + Missense_Mutation SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:120385895A>G uc003vjj.1 + 5 2494 c.1529A>G c.(1528-1530)AAT>AGT p.N510S NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 510 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) GCAACTGTTAATCGTCCTTCA 0.438 NaN 0 0 0 0.008361 0 27 51 TSGA13 114960 broad.mit.edu 37 7 130353957 130353957 + Nonsense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:130353957G>T uc003vqi.2 - 8 1182 c.725C>A c.(724-726)TCG>TAG p.S242* COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.2_Nonsense_Mutation_p.S242* NM_052933 NP_443165 Q96PP4 TSG13_HUMAN testis specific, 13 242 ovary(2) 2 Melanoma(18;0.0435) TTCCAAGAGCGATGCGAGTGT 0.582 NaN 1 0 3.86903e-22 0.013726 4.46662e-22 32 72 TBXAS1 6916 broad.mit.edu 37 7 139706905 139706905 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:139706905C>G uc011kqv.1 + 11 1454 c.1290C>G c.(1288-1290)TTC>TTG p.F430L TBXAS1_uc003vvh.2_Missense_Mutation_p.F384L|TBXAS1_uc010lne.2_Missense_Mutation_p.F316L|TBXAS1_uc011kqu.1_Missense_Mutation_p.F335L|TBXAS1_uc003vvi.2_Missense_Mutation_p.F384L|TBXAS1_uc003vvj.2_Missense_Mutation_p.F384L|TBXAS1_uc011kqw.1_Missense_Mutation_p.F364L NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 383 Cytoplasmic (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) CCCCTGAGTTCTGCAGCCTCG 0.532 NaN 0 0 0 0.01441 0 60 133 OR2A25 392138 broad.mit.edu 37 7 143771967 143771967 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:143771967C>T uc011ktx.1 + 1 655 c.655C>T c.(655-657)CAT>TAT p.H219Y NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 219 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) ATCTTATGTTCATATTCTATG 0.483 NaN 0 0 0 0.003954 0 25 60 ZNF777 27153 broad.mit.edu 37 7 149129883 149129883 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:149129883C>G uc003wfv.2 - 6 1643 c.1480G>C c.(1480-1482)GAG>CAG p.E494Q NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 494 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGGGACATCTCCCCGGGCAGC 0.602 NaN 0 0 0 0.004482 0 7 27 MLL3 58508 broad.mit.edu 37 7 151945439 151945439 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:151945439G>A uc003wla.2 - 14 2299 c.2080C>T c.(2080-2082)CTT>TTT p.L694F NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 694 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCTAGTGGAAGAGTGACAGAT 0.423 NaN N medulloblastoma 0 0 0 0.000602 0 5 40 DOK2 9046 broad.mit.edu 37 8 21767094 21767094 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr8:21767094G>C uc003wzy.1 - 5 1060 c.967C>G c.(967-969)CAG>GAG p.Q323E DOK2_uc003wzx.1_Missense_Mutation_p.Q323E|DOK2_uc003wzz.1_Missense_Mutation_p.Q169E|DOK2_uc010lth.1_Missense_Mutation_p.Q169E NM_003974 NP_003965 O60496 DOK2_HUMAN docking protein 2 323 Pro-rich. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding 0 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GCCAGGAGCTGAGGAGGGACT 0.647 NaN 0 0 0 0.012213 0 30 43 PEBP4 157310 broad.mit.edu 37 8 22570973 22570973 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr8:22570973C>G uc003xcn.1 - 7 686 c.594G>C c.(592-594)CAG>CAC p.Q198H NM_144962 NP_659399 Q96S96 PEBP4_HUMAN phosphatidylethanolamine-binding protein 4 198 lysosome ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 Prostate(55;0.0453)|Breast(100;0.103) Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124) CCTGGTAGTTCTGGGTCATGA 0.557 NaN 0 0 0 0.00308 0 8 18 PUF60 22827 broad.mit.edu 37 8 144899273 144899273 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr8:144899273G>A uc003yzs.2 - 11 1251 c.1187C>T c.(1186-1188)TCG>TTG p.S396L SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.S336L|PUF60_uc003yzt.2_Missense_Mutation_p.S379L|PUF60_uc003yzq.2_Missense_Mutation_p.S353L|PUF60_uc003yzu.1_Missense_Mutation_p.S385L NM_078480 NP_510965 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa isoform a 396 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding 0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CACTCCCACCGAGGGGATGGT 0.612 NaN 0 0 0 0.00308 0 5 32 NRBP2 340371 broad.mit.edu 37 8 144921499 144921499 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr8:144921499G>C uc011lkt.1 - 6 707 c.567C>G c.(565-567)ATC>ATG p.I189M NRBP2_uc003yzv.2_Translation_Start_Site|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_Translation_Start_Site|NRBP2_uc011lks.1_Translation_Start_Site|NRBP2_uc003yzy.2_Translation_Start_Site NM_178564 NP_848659 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 189 Protein kinase. negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2) 2 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGCCGATCTTGATGAGGCCGT 0.657 NaN 0 0 0 0.009096 0 3 28 PLEC 5339 broad.mit.edu 37 8 144999683 144999683 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr8:144999683C>T uc003zaf.1 - 31 4995 c.4825G>A c.(4825-4827)GAG>AAG p.E1609K PLEC_uc003zab.1_Missense_Mutation_p.E1472K|PLEC_uc003zac.1_Missense_Mutation_p.E1476K|PLEC_uc003zad.2_Missense_Mutation_p.E1472K|PLEC_uc003zae.1_Missense_Mutation_p.E1440K|PLEC_uc003zag.1_Missense_Mutation_p.E1450K|PLEC_uc003zah.2_Missense_Mutation_p.E1458K|PLEC_uc003zaj.2_Missense_Mutation_p.E1499K NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1609 Central fibrous rod domain.|Potential. 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 AGCTCCCCCTCAGCCCCGCCA 0.721 NaN 0 0 0 0.001168 0 5 25 HSF1 3297 broad.mit.edu 37 8 145533476 145533476 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr8:145533476G>A uc003zbt.3 + 4 552 c.382G>A c.(382-384)GAA>AAA p.E128K HSF1_uc003zbu.3_RNA NM_005526 NP_005517 Q00613 HSF1_HUMAN heat shock transcription factor 1 128 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) CCTGAAGAGTGAAGACATAAA 0.602 NaN 0 0 0 0.00278 0 16 152 GLDC 2731 broad.mit.edu 37 9 6540106 6540106 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:6540106G>C uc003zkc.2 - 22 2803 c.2610C>G c.(2608-2610)TTC>TTG p.F870L NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 870 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CAGACTTTTTGAAGGGTCTCG 0.448 NaN 0 0 0 0.010504 0 19 90 C9orf93 203238 broad.mit.edu 37 9 15623317 15623317 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:15623317C>G uc003zmd.2 + 7 1043 c.728C>G c.(727-729)ACA>AGA p.T243R C9orf93_uc010mih.1_Missense_Mutation_p.T243R|C9orf93_uc003zme.2_Missense_Mutation_p.T150R|C9orf93_uc011lmu.1_Missense_Mutation_p.T243R|C9orf93_uc003zmc.2_Missense_Mutation_p.T243R NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 243 Potential.|Glu-rich. 0 GBM - Glioblastoma multiforme(50;4.84e-07) AAATTAGAAACAGAACATATG 0.348 NaN 0 0 0 0.006122 0 15 72 SLC24A2 25769 broad.mit.edu 37 9 19521029 19521029 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:19521029C>G uc003zoa.1 - 9 1661 c.1599G>C c.(1597-1599)GAG>GAC p.E533D SLC24A2_uc003zob.1_Missense_Mutation_p.E516D NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 533 Cytoplasmic (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GGCCCATAATCTCTTCACTGA 0.448 NaN 0 0 0 0.007413 0 14 17 ALDH1A1 216 broad.mit.edu 37 9 75540481 75540481 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:75540481C>G uc004ajd.2 - 6 605 c.552G>C c.(550-552)CTG>CTC p.L184L ALDH1A1_uc011lsh.1_Silent_p.L105L|ALDH1A1_uc011lsg.1_Silent_p.L10L NM_000689 NP_000680 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1A1 184 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity ovary(3)|lung(1) 4 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TTCCACAGCTCAGTGCAGGCC 0.423 NaN 0 0 0 0.004656 0 24 30 PRUNE2 158471 broad.mit.edu 37 9 79318656 79318656 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:79318656C>T uc010mpk.2 - 9 7997 c.7873G>A c.(7873-7875)GAA>AAA p.E2625K PRUNE2_uc004akj.3_Missense_Mutation_p.E78K|PRUNE2_uc010mpl.1_Missense_Mutation_p.E78K NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2625 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GCAGGGCTTTCAAAAGATGAT 0.493 NaN 0 0 0 0.004672 0 3 9 S1PR3 1903 broad.mit.edu 37 9 91617099 91617099 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:91617099C>T uc004aqe.2 + 2 1380 c.984C>T c.(982-984)ATC>ATT p.I328I NM_005226 NP_005217 Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 328 Cytoplasmic (By similarity). anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1)|central_nervous_system(1)|skin(1) 5 CCTCACCCATCCAGCCTGCGC 0.627 NaN 0 0 0 0.012319 0 18 27 FAM129B 64855 broad.mit.edu 37 9 130269539 130269539 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:130269539G>A uc004brh.2 - 14 2028 c.1826C>T c.(1825-1827)TCA>TTA p.S609L FAM129B_uc004bri.2_Missense_Mutation_p.S596L|FAM129B_uc004brj.3_3'UTR NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN hypothetical protein LOC64855 isoform 1 609 protein binding 0 GAGGGTGGCTGACTCCGGGGT 0.697 NaN 0 0 0 0.006122 0 15 12 GOLGA2 2801 broad.mit.edu 37 9 131028091 131028091 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:131028091G>A uc011maw.1 - 10 734 c.721C>T c.(721-723)CAG>TAG p.Q241* GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_Nonsense_Mutation_p.Q142*|GOLGA2_uc004bum.1_Nonsense_Mutation_p.Q115* NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 241 Potential. Golgi cisterna membrane protein binding ovary(1) 1 GCAGCATGCTGAGTGTGAGCC 0.532 NaN 0 0 0 0.007291 0 22 54 KCNT1 57582 broad.mit.edu 37 9 138650273 138650273 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:138650273G>A uc011mdq.1 + 10 847 c.773G>A c.(772-774)CGT>CAT p.R258H KCNT1_uc011mdr.1_Missense_Mutation_p.R85H|KCNT1_uc010nbf.2_Missense_Mutation_p.R210H|KCNT1_uc004cgo.1_Missense_Mutation_p.R7H NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 258 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GACTTCCACCGTGCCATCCTG 0.587 NaN 0 0 0 0.014323 0 17 81 INPP5E 56623 broad.mit.edu 37 9 139326391 139326391 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:139326391G>A uc004cho.2 - 7 1819 c.1434C>T c.(1432-1434)TTC>TTT p.F478F INPP5E_uc010nbm.2_Silent_p.F477F NM_019892 NP_063945 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase E 478 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity skin(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) GGCGGAAGTTGAAGTCTCCAA 0.667 NaN 0 0 0 0.008361 0 22 23 GRIN1 2902 broad.mit.edu 37 9 140051206 140051206 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:140051206G>A uc004clk.2 + 5 1087 c.757G>A c.(757-759)GAG>AAG p.E253K GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.E250K|GRIN1_uc004cll.2_Missense_Mutation_p.E253K|GRIN1_uc004clm.2_Missense_Mutation_p.E253K|GRIN1_uc004cln.2_Missense_Mutation_p.E271K|GRIN1_uc004clo.2_Missense_Mutation_p.E271K NM_007327 NP_015566 Q05586 NMDZ1_HUMAN NMDA receptor 1 isoform NR1-3 precursor 253 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding skin(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CGGCGAGCGCGAGATCTCGGG 0.697 NaN 0 0 0 0.001984 0 6 3 GRIN1 2902 broad.mit.edu 37 9 140051368 140051368 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:140051368G>A uc004clk.2 + 6 1177 c.847G>A c.(847-849)GAC>AAC p.D283N GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.D280N|GRIN1_uc004cll.2_Missense_Mutation_p.D283N|GRIN1_uc004clm.2_Missense_Mutation_p.D283N|GRIN1_uc004cln.2_Missense_Mutation_p.D301N|GRIN1_uc004clo.2_Missense_Mutation_p.D301N NM_007327 NP_015566 Q05586 NMDZ1_HUMAN NMDA receptor 1 isoform NR1-3 precursor 283 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding skin(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCACATCAGCGACGCCGTGGG 0.672 NaN 0 0 0 0.00308 0 7 3 MRPL41 64975 broad.mit.edu 37 9 140446562 140446562 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:140446562G>A uc004cnh.3 + 2 159 c.29G>A c.(28-30)TGC>TAC p.C10Y PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank NM_032477 NP_115866 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 10 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) GCGGCGCGCTGCCTGGTCCGG 0.657 NaN 0 0 0 0.006214 0 7 9 EHMT1 79813 broad.mit.edu 37 9 140729270 140729270 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:140729270C>T uc011mfc.1 + 27 3799 c.3762C>T c.(3760-3762)TTC>TTT p.F1254F EHMT1_uc004coe.2_Silent_p.F159F NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1254 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GCAAGCTCTTCAGCTGCCGCT 0.672 NaN 0 0 0 0.00499 0 14 16 STS 412 broad.mit.edu 37 X 7268167 7268167 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:7268167G>C uc004cry.3 + 10 1862 c.1617G>C c.(1615-1617)CAG>CAC p.Q539H NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 539 Lumenal. female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GACACACCCAGACCCTGCCAG 0.542 NaN Ichthyosis 0 0 0 0.00632 0 21 14 TLR8 51311 broad.mit.edu 37 X 12938248 12938248 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:12938248C>G uc004cve.2 + 2 1157 c.1089C>G c.(1087-1089)TTC>TTG p.F363L TLR8_uc004cvd.2_Missense_Mutation_p.F381L NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 363 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 CCAGAAACTTCTCTAAACTTT 0.393 NaN 0 0 0 0.007291 0 26 43 TLR8 51311 broad.mit.edu 37 X 12938564 12938564 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:12938564C>G uc004cve.2 + 2 1473 c.1405C>G c.(1405-1407)CAT>GAT p.H469D TLR8_uc004cvd.2_Missense_Mutation_p.H487D NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 469 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 GAACTTTTATCATTTCACCCG 0.398 NaN 0 0 0 0.008361 0 22 38 FIGF 2277 broad.mit.edu 37 X 15371214 15371214 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:15371214C>T uc004cwt.1 - 5 1227 c.718G>A c.(718-720)GAA>AAA p.E240K NM_004469 NP_004460 O43915 VEGFD_HUMAN vascular endothelial growth factor D 240 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding ovary(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(33;0.183) AGTGGATTTTCCTCCTGCAAA 0.264 NaN 0 0 0 0.008871 0 14 35 CXorf23 256643 broad.mit.edu 37 X 19973576 19973576 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:19973576C>G uc004czp.2 - 4 1383 c.1383G>C c.(1381-1383)CAG>CAC p.Q461H CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.Q26H|CXorf23_uc004czo.2_Missense_Mutation_p.Q411H NM_198279 NP_938020 A2AJT9 CX023_HUMAN hypothetical protein LOC256643 461 mitochondrion lung(1)|skin(1) 2 TTTCAGTATTCTGAGTTGAGT 0.378 NaN 0 0 0 0.003163 0 12 29 MAGEB1 4112 broad.mit.edu 37 X 30269617 30269617 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:30269617C>G uc004dcc.2 + 4 1327 c.1007C>G c.(1006-1008)TCT>TGT p.S336C MAGEB1_uc004dcd.2_Missense_Mutation_p.S336C|MAGEB1_uc004dce.2_Missense_Mutation_p.S336C NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 336 0 AGAGCGCGTTCTAGAGCCCCA 0.507 NaN 0 0 0 0.00632 0 24 14 PRICKLE3 4007 broad.mit.edu 37 X 49040229 49040229 + Silent SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:49040229C>A uc004dmy.1 - 3 296 c.270G>T c.(268-270)TCG>TCT p.S90S PRICKLE3_uc011mmv.1_Silent_p.S22S|PRICKLE3_uc011mmw.1_Silent_p.S22S|PRICKLE3_uc011mmx.1_Silent_p.S90S|PRICKLE3_uc011mmy.1_Silent_p.S90S NM_006150 NP_006141 O43900 PRIC3_HUMAN LIM domain only 6 90 PET. protein binding|zinc ion binding breast(1) 1 CATACTCCTCCGATGCACAGC 0.617 NaN 1 0 4.74835e-14 0.010818 5.21335e-14 23 10 PRICKLE3 4007 broad.mit.edu 37 X 49040246 49040246 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:49040246C>G uc004dmy.1 - 3 279 c.253G>C c.(253-255)GAC>CAC p.D85H PRICKLE3_uc011mmv.1_Missense_Mutation_p.D17H|PRICKLE3_uc011mmw.1_Missense_Mutation_p.D17H|PRICKLE3_uc011mmx.1_Missense_Mutation_p.D85H|PRICKLE3_uc011mmy.1_Missense_Mutation_p.D85H NM_006150 NP_006141 O43900 PRIC3_HUMAN LIM domain only 6 85 PET. protein binding|zinc ion binding breast(1) 1 CAGCCTGAGTCGTCGTCGGAG 0.642 NaN 0 0 0 0.00623 0 30 15 FAM199X 139231 broad.mit.edu 37 X 103411483 103411483 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:103411483C>T uc004elw.2 + 1 183 c.17C>T c.(16-18)TCG>TTG p.S6L NM_207318 NP_997201 Q6PEV8 F199X_HUMAN hypothetical protein LOC139231 6 ovary(1) 1 GACGAGGCCTCGGCCATCACT 0.701 NaN 0 0 0 0.001168 0 5 1 RGAG1 57529 broad.mit.edu 37 X 109695851 109695851 + Missense_Mutation SNP C C T rs148619359 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:109695851C>T uc004eor.1 + 3 2252 c.2006C>T c.(2005-2007)TCG>TTG p.S669L RGAG1_uc011msr.1_Missense_Mutation_p.S669L NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 669 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TTGTCTGCATCGCTAATGAGA 0.512 NaN 0 0 0 0.00245 0 13 32 FAM70A 55026 broad.mit.edu 37 X 119402108 119402108 + Silent SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:119402108A>G uc004eso.3 - 9 1109 c.882T>C c.(880-882)TAT>TAC p.Y294Y FAM70A_uc004esp.3_Silent_p.Y270Y|FAM70A_uc010nqo.2_Silent_p.Y186Y NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 294 Pro-rich. integral to membrane lung(1)|breast(1) 2 CCTGAAAGTCATAAGCAGAAT 0.413 NaN 0 0 0 0.01441 0 75 45 CETN2 1069 broad.mit.edu 37 X 151996453 151996453 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:151996453G>A uc004fgq.2 - 5 498 c.451C>T c.(451-453)CGA>TGA p.R151* CETN2_uc004fgr.2_Nonsense_Mutation_p.R80* NM_004344 NP_004335 P41208 CETN2_HUMAN caltractin 151 2.|EF-hand 4. cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis centriole|cytosol|XPC complex ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding 0 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCATCTCGATCAGCTTCA 0.358 NaN Direct_reversal_of_damage|NER 0 0 0 0.007291 0 22 74 NSDHL 50814 broad.mit.edu 37 X 152014895 152014895 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:152014895G>A uc004fgt.1 + 3 288 c.27G>A c.(25-27)ATG>ATA p.M9I NSDHL_uc004fgs.1_Missense_Mutation_p.M9I NM_001129765 NP_001123237 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 9 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity 0 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) GCGAGCCAATGAGAGACCAAG 0.408 NaN 0 0 0 0.009718 0 31 33 HCFC1 3054 broad.mit.edu 37 X 153229678 153229678 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:153229678G>C uc004fjp.2 - 3 928 c.400C>G c.(400-402)CCG>GCG p.P134A NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 134 Kelch 2. P->S: Eliminates VIC formation and association with VP16. Weak association with POU2F1. Unable to associate with CREBZF and BAP1. Unable to rescue proliferation in temperature-sensitive arrested cells. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGAGGACACGGAGGGGGCCCG 0.562 NaN 0 0 0 0.01441 0 56 38 USP9Y 8287 broad.mit.edu 37 Y 14898191 14898191 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrY:14898191G>T uc004fst.1 + 23 4151 c.3206G>T c.(3205-3207)GGA>GTA p.G1069V USP9Y_uc010nwu.1_RNA NM_004654 NP_004645 O00507 USP9Y_HUMAN ubiquitin specific protease 9, Y-linked 1069 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 GCAAAACTTGGAGAAGGCAAA 0.398 NaN 1 0 1.02788e-11 0.00499 1.10564e-11 14 51 RPTN 126638 broad.mit.edu 37 1 152128385 152128388 + Frame_Shift_Del DEL TGTC TGTC - TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:152128385_152128388delTGTC uc001ezs.1 - 3 1252_1255 c.1187_1190delGACA c.(1186-1191)AGACAAfs p.R396fs NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 396_397 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 ACTTTGGTCTTGTCTGTCTGTCTG 0.505 NaN NaN NaN NaN NaN NaN 8 1501 --- --- SUPT5H 6829 broad.mit.edu 37 19 39962359 39962359 + Frame_Shift_Del DEL G G - TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:39962359delG uc002olo.3 + 20 2118 c.1939delG c.(1939-1941)GGGfs p.G647fs SUPT5H_uc002olp.3_Frame_Shift_Del_p.G647fs|SUPT5H_uc002olq.3_Frame_Shift_Del_p.G643fs|SUPT5H_uc002oln.3_Frame_Shift_Del_p.G647fs|SUPT5H_uc002olr.3_Frame_Shift_Del_p.G647fs|SUPT5H_uc002ols.1_Frame_Shift_Del_p.G270fs|SUPT5H_uc010egp.1_Frame_Shift_Del_p.G13fs NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 647 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGTGCTGGCTGGGGGCTCAAA 0.587 NaN NaN NaN NaN NaN NaN 15 40 --- --- USP4 7375 broad.mit.edu 37 3 49362440 49362441 + Frame_Shift_Ins INS - - A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49362440_49362441insA uc003cwq.2 - 5 598_599 c.519_520insT c.(517-522)TTCAACfs p.F173fs USP4_uc003cwr.2_Frame_Shift_Ins_p.F173fs NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 173_174 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GCAGGGATGTTGAATAGCTTCC 0.5 NaN NaN NaN NaN NaN NaN 52 162 --- --- PAXIP1 22976 broad.mit.edu 37 7 154760267 154760269 + In_Frame_Del DEL CTG CTG - TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:154760267_154760269delCTG uc003wlp.2 - 7 1685_1687 c.1642_1644delCAG c.(1642-1644)CAGdel p.Q548del PAXIP1_uc003wlq.1_In_Frame_Del_p.Q514del|PAXIP1_uc011kvs.1_In_Frame_Del_p.Q512del|PAXIP1_uc003wlr.1_In_Frame_Del_p.Q457del NM_007349 NP_031375 Q6ZW49 PAXI1_HUMAN PAX interacting protein 1 548 Gln-rich. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) GACTTTGCATctgctgctgctgc 0.227 NaN NaN NaN NaN NaN NaN 4 4 --- ---