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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut SPATA21 374955 broad.mit.edu 37 1 16727317 16727317 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:16727317G>A uc001ayn.2 - 11 1555 c.1072C>T c.(1072-1074)CGG>TGG p.R358W SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.R335W NM_198546 NP_940948 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 358 calcium ion binding ovary(2)|breast(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) TTCTGCAACCGCAGCCGGCCT 0.582 NA 6 264 0 0 0 0 SASS6 163786 broad.mit.edu 37 1 100572486 100572486 + Silent SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:100572486G>A uc001dsu.2 - 12 1531 c.1390C>T c.(1390-1392)CTA>TTA p.L464L SASS6_uc009wdz.2_Silent_p.L297L NM_194292 NP_919268 Q6UVJ0 SAS6_HUMAN spindle assembly abnormal protein 6 464 Potential. centriole replication centriole upper_aerodigestive_tract(1)|ovary(1) 2 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) TTATTTTTTAGAAGTTGTTTG 0.214 NA 3 20 0 0 0 0 STXBP3 6814 broad.mit.edu 37 1 109340774 109340774 + Missense_Mutation SNP A A C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:109340774A>C uc001dvy.2 + 16 1439 c.1364A>C c.(1363-1365)CAA>CCA p.Q455P STXBP3_uc001dvz.2_RNA NM_007269 NP_009200 O00186 STXB3_HUMAN syntaxin binding protein 3 455 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding ovary(3)|central_nervous_system(1) 4 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TAGTCTCAACAAGGCAAACCG 0.313 NA 29 113 0 0 0 0 SYT6 148281 broad.mit.edu 37 1 114680442 114680442 + Missense_Mutation SNP C C T rs139165674 byFrequency TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:114680442C>T uc001eev.2 - 3 741 c.491G>A c.(490-492)CGT>CAT p.R164H NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 249 Cytoplasmic (Potential).|C2 1. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTCAGGATACGCACAATCAG 0.542 NA 32 89 0 0 0 0 PTGFRN 5738 broad.mit.edu 37 1 117492010 117492010 + Silent SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:117492010G>A uc001egv.1 + 4 1166 c.1029G>A c.(1027-1029)TCG>TCA p.S343S NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 343 Ig-like C2-type 3.|Extracellular (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TGCACAGCTCGCCTCATGTTG 0.572 NA 11 89 0 0 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858559 149858559 + Missense_Mutation SNP G G C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:149858559G>C uc001etd.2 + 1 35 c.35G>C c.(34-36)CGC>CCC p.R12P HIST2H2BE_uc001etc.2_5'Flank NM_003517 NP_003508 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 12 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GGCAAGGCCCGCGCCAAGGCC 0.582 NA 12 128 0 0 0 0 THEM5 284486 broad.mit.edu 37 1 151824773 151824773 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:151824773G>A uc009wnd.2 - 2 418 c.286C>T c.(286-288)CGG>TGG p.R96W NM_182578 NP_872384 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 96 hydrolase activity ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TTGAGTCCCCGGATGTGGTCT 0.542 NA 19 139 0 0 0 0 NTRK1 4914 broad.mit.edu 37 1 156843527 156843527 + Missense_Mutation SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:156843527A>G uc001fqh.1 + 8 1009 c.953A>G c.(952-954)AAT>AGT p.N318S NTRK1_uc001fqf.1_Missense_Mutation_p.N288S|NTRK1_uc009wsi.1_Missense_Mutation_p.N23S|NTRK1_uc001fqi.1_Missense_Mutation_p.N318S|NTRK1_uc009wsk.1_Missense_Mutation_p.N318S NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 318 Ig-like C2-type 2.|Extracellular (Potential). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TGGCTCTTCAATGGCTCCGTG 0.637 NA T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 5 27 0 0 0 0 RNASEL 6041 broad.mit.edu 37 1 182554927 182554927 + Nonsense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:182554927G>A uc001gpj.1 - 1 1182 c.1015C>T c.(1015-1017)CAG>TAG p.Q339* RNASEL_uc009wxz.1_Nonsense_Mutation_p.Q339*|RNASEL_uc001gpk.2_Nonsense_Mutation_p.Q339*|RNASEL_uc009wya.1_Nonsense_Mutation_p.Q339* NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 339 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 TGTGAGCTCTGAGGCTTCCAG 0.463 NA Hereditary_Prostate_Cancer 11 84 0 0 0 0 DHX9 1660 broad.mit.edu 37 1 182812531 182812531 + Missense_Mutation SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:182812531A>G uc001gpr.2 + 3 377 c.214A>G c.(214-216)ATA>GTA p.I72V DHX9_uc001gps.2_5'UTR NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 72 Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 TTTGGTTCGAATAAATGAAAT 0.378 NA 7 74 0 0 0 0 HMCN1 83872 broad.mit.edu 37 1 186136045 186136045 + Missense_Mutation SNP G G A rs148826584 by1000genomes TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:186136045G>A uc001grq.1 + 100 15774 c.15545G>A c.(15544-15546)CGA>CAA p.R5182Q HMCN1_uc001grs.1_Missense_Mutation_p.R751Q NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5182 EGF-like 2; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AGTGGCTTTCGAAGAACCTCT 0.458 NA 10 68 0 0 0 0 BTG2 7832 broad.mit.edu 37 1 203276431 203276431 + Silent SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:203276431G>A uc001gzq.2 + 2 413 c.342G>A c.(340-342)GGG>GGA p.G114G FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA NM_006763 NP_006754 P78543 BTG2_HUMAN B-cell translocation gene 2 114 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(1)|kidney(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.203) ACCGCATTGGGGAGGACGGCT 0.667 NA 15 81 0 0 0 0 CD34 947 broad.mit.edu 37 1 208061164 208061164 + Silent SNP A A T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:208061164A>T uc001hgw.1 - 8 1335 c.1077T>A c.(1075-1077)GCT>GCA p.A359A CD34_uc001hgv.1_Silent_p.A201A|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Silent_p.A224A NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 359 Cytoplasmic (Potential). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 CGTTTTCCTGAGCCCCTCGGT 0.592 NA 5 53 0 0 0 0 TTC13 79573 broad.mit.edu 37 1 231060684 231060684 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:231060684C>T uc001huf.3 - 14 1655 c.1624G>A c.(1624-1626)GTG>ATG p.V542M TTC13_uc009xfi.2_Missense_Mutation_p.V489M|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.V489M|TTC13_uc009xfk.1_Missense_Mutation_p.V432M NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 542 binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) GTACGCTGCACGGCTTGCATG 0.463 NA 24 101 0 0 0 0 OR2T2 401992 broad.mit.edu 37 1 248616314 248616314 + Silent SNP C C A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:248616314C>A uc001iek.1 + 1 216 c.216C>A c.(214-216)ACC>ACA p.T72T NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCATGGATACCATCTACATCT 0.512 NA 16 189 3.52e-12 4.38e-12 1 0 OR2T2 401992 broad.mit.edu 37 1 248616457 248616457 + Missense_Mutation SNP C C A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr1:248616457C>A uc001iek.1 + 1 359 c.359C>A c.(358-360)GCC>GAC p.A120D NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 120 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGTCTCATGGCCTATGACCGC 0.547 NA 12 130 5.01e-05 5.96e-05 1 0 PFKFB3 5209 broad.mit.edu 37 10 6255710 6255710 + Silent SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr10:6255710A>G uc001ije.2 + 2 585 c.201A>G c.(199-201)AAA>AAG p.K67K PFKFB3_uc001ijd.2_Silent_p.K47K|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.K81K|PFKFB3_uc001ijf.2_Silent_p.K67K NM_004566 NP_004557 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2, 67 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(2)|central_nervous_system(1) 3 TCCCCACAAAAGGTGAGACTG 0.612 NA 3 158 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55600185 55600185 + Missense_Mutation SNP C C A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr10:55600185C>A uc001jju.1 - 29 4273 c.3878G>T c.(3877-3879)CGG>CTG p.R1293L PCDH15_uc010qhq.1_Missense_Mutation_p.R1298L|PCDH15_uc010qhr.1_Missense_Mutation_p.R1293L|PCDH15_uc010qhs.1_Missense_Mutation_p.R1305L|PCDH15_uc010qht.1_Missense_Mutation_p.R1300L|PCDH15_uc010qhu.1_Missense_Mutation_p.R1293L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1293L|PCDH15_uc010qhw.1_Missense_Mutation_p.R1256L|PCDH15_uc010qhx.1_Missense_Mutation_p.R1222L|PCDH15_uc010qhy.1_Missense_Mutation_p.R1298L|PCDH15_uc010qhz.1_Missense_Mutation_p.R1293L|PCDH15_uc010qia.1_Missense_Mutation_p.R1271L|PCDH15_uc010qib.1_Missense_Mutation_p.R1271L NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1293 Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ATCTCCATGCCGGCGAGCTCC 0.448 NA HNSCC(58;0.16) 11 71 0.00829132 0.00944551 1 0 ARID5B 84159 broad.mit.edu 37 10 63829502 63829502 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr10:63829502G>A uc001jlt.1 + 8 1171 c.1145G>A c.(1144-1146)GGC>GAC p.G382D ARID5B_uc001jlu.1_Missense_Mutation_p.G139D NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 382 ARID. liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) GATGAATTAGGCGGTAATCCT 0.403 NA 12 58 0 0 0 0 ZNF503 84858 broad.mit.edu 37 10 77160129 77160129 + Missense_Mutation SNP C C G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr10:77160129C>G uc001jxg.2 - 2 655 c.319G>C c.(319-321)GAT>CAT p.D107H C10orf41_uc010qlf.1_5'Flank NM_032772 NP_116161 Q96F45 ZN503_HUMAN zinc finger protein 503 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) TTCTTGGCATCGAGCTGCGGG 0.597 NA 8 45 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1156593 1156593 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr11:1156593G>A uc009ycr.1 + 7 736 c.610G>A c.(610-612)GCC>ACC p.A204T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 200 VWFD 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCAAATACGCCAACAAGAC 0.607 NA 13 101 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1265999 1265999 + Missense_Mutation SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr11:1265999T>C uc009ycr.1 + 48 9929 c.9803T>C c.(9802-9804)CTT>CCT p.L3268P MUC5B_uc001ltb.2_Missense_Mutation_p.L2633P NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2630 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCACGCACGCTTCCAGTGTGG 0.637 NA 3 148 0 0 0 0 CARS 833 broad.mit.edu 37 11 3038413 3038413 + Missense_Mutation SNP C C A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr11:3038413C>A uc001lxh.2 - 15 1665 c.1591G>T c.(1591-1593)GCC>TCC p.A531S CARS_uc001lxe.2_Missense_Mutation_p.A521S|CARS_uc001lxf.2_Missense_Mutation_p.A614S|CARS_uc001lxg.2_Missense_Mutation_p.A531S|CARS_uc010qxo.1_Missense_Mutation_p.A614S|CARS_uc010qxp.1_Missense_Mutation_p.A544S NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 531 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) GCTTTCCGGGCTGCCATATAG 0.577 NA T ALK ALCL 8 71 5.18e-06 6.2e-06 1 0 NUP98 4928 broad.mit.edu 37 11 3697423 3697423 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr11:3697423G>A uc001lyh.2 - 33 5660 c.5369C>T c.(5368-5370)TCC>TTC p.S1790F NUP98_uc001lyi.2_Missense_Mutation_p.S1716F|NUP98_uc001lyg.2_Missense_Mutation_p.S755F NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 1807 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TCGCAGATAGGACTGGGTAAG 0.587 NA T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 11 60 0 0 0 0 TPH1 7166 broad.mit.edu 37 11 18054883 18054883 + Missense_Mutation SNP C C G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr11:18054883C>G uc001mnp.2 - 3 366 c.340G>C c.(340-342)GAC>CAC p.D114H TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 114 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) TGGTCCAGGTCAGAAATCTTC 0.284 NA 21 157 0 0 0 0 HRASLS2 54979 broad.mit.edu 37 11 63326093 63326093 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr11:63326093G>A uc001nxg.1 - 3 217 c.158C>T c.(157-159)GCC>GTC p.A53V NM_017878 NP_060348 Q9NWW9 HRSL2_HUMAN HRAS-like suppressor 2 53 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity 0 GTTGGTCAGGGCAGACAGGAC 0.557 NA 4 162 0 0 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68701351 68701351 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr11:68701351G>A uc001ook.1 + 10 1609 c.1507G>A c.(1507-1509)GAG>AAG p.E503K IGHMBP2_uc001ool.1_Missense_Mutation_p.E127K|IGHMBP2_uc001oom.1_Missense_Mutation_p.E81K NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 503 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGAGCTGGAGGAGGAGGACGA 0.562 NA 7 16 0 0 0 0 MYO7A 4647 broad.mit.edu 37 11 76919561 76919561 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr11:76919561C>T uc001oyb.2 + 43 6215 c.5943C>T c.(5941-5943)GAC>GAT p.D1981D MYO7A_uc001oyc.2_Silent_p.D1943D|MYO7A_uc001oye.2_RNA NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 1981 FERM 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CCATCAAGGACGGTAATGAGG 0.597 NA 3 21 0 0 0 0 SCN3B 55800 broad.mit.edu 37 11 123516409 123516410 + Missense_Mutation DNP GG GG AA TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr11:123516409_123516410GG>AA uc001pza.1 - 3 511_512 c.104_105CC>TT c.(103-105)GCC>GTT p.A35V SCN3B_uc001pzb.1_Missense_Mutation_p.A35V NM_001040151 NP_001035241 Q9NY72 SCN3B_HUMAN voltage-gated sodium channel beta-3 subunit 35 Ig-like C2-type.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) TGCCCTGCACGGCCTCCGTCTC 0.629 NA 15 100 0 0 0 0 GOLT1B 51026 broad.mit.edu 37 12 21668638 21668638 + Silent SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr12:21668638A>G uc001rez.2 + 5 573 c.414A>G c.(412-414)GTA>GTG p.V138V GOLT1B_uc009zis.2_RNA|GOLT1B_uc009zit.2_RNA|GOLT1B_uc009ziu.2_RNA NM_016072 NP_057156 Q9Y3E0 GOT1B_HUMAN golgi transport 1 homolog B 138 Cytoplasmic (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport endoplasmic reticulum|Golgi membrane|integral to membrane signal transducer activity 0 ACAATATGGTATAACAACAAG 0.264 NA 8 58 0 0 0 0 ASB8 140461 broad.mit.edu 37 12 48543152 48543152 + Silent SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr12:48543152T>C uc001rrh.2 - 4 1033 c.864A>G c.(862-864)GAA>GAG p.E288E ASB8_uc010slr.1_Silent_p.E284E NM_024095 NP_077000 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box-containing 8 288 SOCS box. intracellular signal transduction cytoplasm|nucleus kidney(1) 1 TCTCCGGCTATTCTAAAAGTA 0.517 NA 6 50 0 0 0 0 TUBA1B 10376 broad.mit.edu 37 12 49521800 49521800 + Nonsense_Mutation SNP C C A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr12:49521800C>A uc001rtm.2 - 4 1518 c.1297G>T c.(1297-1299)GAG>TAG p.E433* TUBA1B_uc001rto.2_Nonsense_Mutation_p.E398*|TUBA1B_uc001rtk.2_Nonsense_Mutation_p.E398*|TUBA1B_uc001rtl.2_Nonsense_Mutation_p.E398*|TUBA1B_uc001rtn.2_Nonsense_Mutation_p.E280*|uc010smg.1_5'UTR NM_006082 NP_006073 P68363 TBA1B_HUMAN tubulin, alpha, ubiquitous 433 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding 0 CCAACCTCCTCATAATCCTTC 0.517 NA 29 168 1.89e-17 2.37e-17 1 0 ESYT1 23344 broad.mit.edu 37 12 56524381 56524381 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr12:56524381G>A uc001sjq.2 + 2 456 c.406G>A c.(406-408)GTG>ATG p.V136M ESYT1_uc001sjr.2_Missense_Mutation_p.V136M NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 136 integral to membrane ovary(4)|skin(1) 5 CTTCCCAGACGTGGAAAAGGC 0.507 NA 12 76 0 0 0 0 TMEM19 55266 broad.mit.edu 37 12 72091109 72091109 + Silent SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr12:72091109A>G uc001sws.2 + 4 1015 c.432A>G c.(430-432)ACA>ACG p.T144T TMEM19_uc001swr.1_Silent_p.T130T|TMEM19_uc009zru.1_RNA NM_018279 NP_060749 Q96HH6 TMM19_HUMAN transmembrane protein 19 144 integral to membrane 0 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGTACCCACAGAACTGGCCC 0.468 NA 27 128 0 0 0 0 PWP1 11137 broad.mit.edu 37 12 108102726 108102726 + Silent SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr12:108102726A>G uc001tmo.1 + 12 1188 c.1101A>G c.(1099-1101)GTA>GTG p.V367V PWP1_uc009zuu.1_Silent_p.V367V NM_007062 NP_008993 Q13610 PWP1_HUMAN periodic tryptophan protein 1 367 transcription, DNA-dependent nucleus 0 ACGGCTTTGTATATAATTTGG 0.368 NA 5 34 0 0 0 0 TMEM132B 114795 broad.mit.edu 37 12 126139185 126139185 + Missense_Mutation SNP T T A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr12:126139185T>A uc001uhe.1 + 9 3174 c.3166T>A c.(3166-3168)TGC>AGC p.C1056S TMEM132B_uc001uhf.1_Missense_Mutation_p.C568S NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 1056 Cytoplasmic (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CAAGTGGGTCTGCCAAGATAT 0.473 NA 4 75 0 0 0 0 SPERT 220082 broad.mit.edu 37 13 46287817 46287817 + Silent SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr13:46287817G>A uc001van.1 + 3 737 c.657G>A c.(655-657)CTG>CTA p.L219L SPERT_uc001vao.2_Silent_p.L183L NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 219 cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CGCCACTGCTGCACAAAGACA 0.657 NA 4 47 0 0 0 0 LPAR6 10161 broad.mit.edu 37 13 48985944 48985944 + Missense_Mutation SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr13:48985944T>C uc010acu.2 - 1 1710 c.616A>G c.(616-618)ATG>GTG p.M206V RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.M206V|LPAR6_uc001vcf.2_Missense_Mutation_p.M206V NM_001162498 NP_001155970 P43657 LPAR6_HUMAN G-protein coupled purinergic receptor P2Y5 206 Helical; Name=5; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.?(4) ovary(4) 4 TTTAGCACCATACTAGAACAA 0.254 NA 5 38 0 0 0 0 DIS3 22894 broad.mit.edu 37 13 73334727 73334727 + Silent SNP G G T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr13:73334727G>T uc001vix.3 - 20 3107 c.2733C>A c.(2731-2733)ATC>ATA p.I911I DIS3_uc001viy.3_Silent_p.I881I|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 911 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) AGTCTAACATGATTTTCACTT 0.333 NA Multiple Myeloma(4;0.011) 12 57 6.4e-05 7.57e-05 1 0 CARS2 79587 broad.mit.edu 37 13 111299462 111299462 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr13:111299462C>T uc001vrd.2 - 11 1219 c.1179G>A c.(1177-1179)GCG>GCA p.A393A CARS2_uc010tjm.1_RNA NM_024537 NP_078813 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial 393 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding 0 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) CCCACAGCATCGCTTCCCTGA 0.672 NA 3 14 0 0 0 0 C13orf16 121793 broad.mit.edu 37 13 111973249 111973249 + Silent SNP G G T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr13:111973249G>T uc001vsa.2 + 2 141 c.12G>T c.(10-12)GTG>GTT p.V4V NM_152324 NP_689537 Q8N6K0 CM016_HUMAN hypothetical protein LOC121793 4 Extracellular (Potential). integral to membrane 0 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188) TGGAATACGTGCTGGAAGTGA 0.642 NA 5 108 0.000602214 0.000702 1 0 OSGEP 55644 broad.mit.edu 37 14 20917164 20917164 + Silent SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr14:20917164G>A uc001vxf.2 - 5 872 c.516C>T c.(514-516)AAC>AAT p.N172N NM_017807 NP_060277 Q9NPF4 OSGEP_HUMAN O-sialoglycoprotein endopeptidase 172 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding 0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) GACTTGGGTCGTTAGAAATCT 0.453 NA 21 198 0 0 0 0 GMPR2 51292 broad.mit.edu 37 14 24702464 24702464 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr14:24702464C>T uc001wnr.2 + 2 387 c.5C>T c.(4-6)CCT>CTT p.P2L NEDD8_uc001wnn.2_5'Flank|NEDD8_uc001wno.2_5'Flank|NEDD8_uc001wnp.2_5'Flank|GMPR2_uc001wnq.1_Missense_Mutation_p.P2L|GMPR2_uc001wnv.2_5'UTR|GMPR2_uc001wns.2_Missense_Mutation_p.P2L|GMPR2_uc001wnt.2_Missense_Mutation_p.P2L|GMPR2_uc001wnu.2_5'UTR|GMPR2_uc001wnw.2_Missense_Mutation_p.P2L|GMPR2_uc010all.2_Missense_Mutation_p.P2L|GMPR2_uc001wnx.2_Missense_Mutation_p.P20L|GMPR2_uc010tod.1_Missense_Mutation_p.P2L|GMPR2_uc010alk.1_Missense_Mutation_p.P2L|GMPR2_uc010toe.1_Missense_Mutation_p.P2L NM_001002001 NP_001002001 Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 isoform 2 2 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding ovary(3) 3 GBM - Glioblastoma multiforme(265;0.0181) AGCGCCATGCCTCATATTGAC 0.517 NA 79 341 0 0 0 0 COCH 1690 broad.mit.edu 37 14 31348049 31348049 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr14:31348049G>A uc001wqr.2 + 5 352 c.272G>A c.(271-273)CGA>CAA p.R91Q COCH_uc001wqp.2_Missense_Mutation_p.R91Q|COCH_uc001wqq.3_Missense_Mutation_p.R91Q|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank NM_004086 NP_004077 O43405 COCH_HUMAN cochlin precursor 91 LCCL. sensory perception of sound proteinaceous extracellular matrix pancreas(1)|central_nervous_system(1)|skin(1) 3 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) GGACCTGTACGAGTCTATAGC 0.458 NA 17 81 0 0 0 0 NRXN3 9369 broad.mit.edu 37 14 79933641 79933641 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr14:79933641C>T uc001xun.2 + 13 2712 c.2221C>T c.(2221-2223)CGG>TGG p.R741W NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.R109W|NRXN3_uc010asw.2_Missense_Mutation_p.R109W|NRXN3_uc001xur.3_Missense_Mutation_p.R109W NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1114 Extracellular (Potential).|Laminin G-like 6. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCCCAGCACGCGGTCTGACCG 0.577 NA 19 94 0 0 0 0 KIAA1409 57578 broad.mit.edu 37 14 94089060 94089060 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr14:94089060C>T uc001ybv.1 + 28 5099 c.5016C>T c.(5014-5016)TCC>TCT p.S1672S KIAA1409_uc001ybs.1_Silent_p.S1650S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1827 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CTGAGGAATCCGAATTTAAGA 0.473 NA 7 46 0 0 0 0 SORD 6652 broad.mit.edu 37 15 45353314 45353314 + Missense_Mutation SNP C C G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr15:45353314C>G uc001zul.3 + 4 456 c.315C>G c.(313-315)TTC>TTG p.F105L SORD_uc010uel.1_Intron|SORD_uc001zum.3_Missense_Mutation_p.F105L|SORD_uc010bdz.2_Missense_Mutation_p.F26L NM_003104 NP_003095 Q00796 DHSO_HUMAN sorbitol dehydrogenase 105 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding 0 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) ATGATGAATTCTGCAAGATGG 0.542 NA 7 57 0 0 0 0 RNF111 54778 broad.mit.edu 37 15 59373425 59373425 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr15:59373425C>T uc002afv.2 + 8 2518 c.2239C>T c.(2239-2241)CCT>TCT p.P747S RNF111_uc002afs.2_Missense_Mutation_p.P747S|RNF111_uc002aft.2_Missense_Mutation_p.P747S|RNF111_uc002afu.2_Missense_Mutation_p.P746S|RNF111_uc002afw.2_Missense_Mutation_p.P747S|RNF111_uc002afx.2_Missense_Mutation_p.P273S NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 747 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) GAGACTGCATCCTCATGAAGT 0.463 NA 11 83 0 0 0 0 THSD4 79875 broad.mit.edu 37 15 72030124 72030124 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr15:72030124G>A uc002atb.1 + 10 1763 c.1684G>A c.(1684-1686)GAA>AAA p.E562K THSD4_uc010ukg.1_Missense_Mutation_p.E202K|THSD4_uc002ate.2_Missense_Mutation_p.E202K NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 562 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 GGAGGAGGGAGAACAGAAAGG 0.562 NA 11 62 0 0 0 0 SNRNP25 79622 broad.mit.edu 37 16 104045 104045 + Missense_Mutation SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr16:104045A>G uc002cfj.3 + 1 217 c.56A>G c.(55-57)GAT>GGT p.D19G POLR3K_uc002cfi.1_5'Flank|SNRNP25_uc002cfk.3_5'Flank NM_024571 NP_078847 Q9BV90 SNR25_HUMAN U11/U12 snRNP 25K protein 19 mRNA processing U12-type spliceosomal complex 0 CTGCTCTGCGATCTGCCGATC 0.701 NA 5 22 0 0 0 0 IGFALS 3483 broad.mit.edu 37 16 1842153 1842153 + Missense_Mutation SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr16:1842153A>G uc002cmy.2 - 2 347 c.266T>C c.(265-267)GTC>GCC p.V89A IGFALS_uc010uvn.1_Missense_Mutation_p.V127A|IGFALS_uc010uvo.1_5'UTR NM_004970 NP_004961 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid 89 LRR 1. cell adhesion|signal transduction soluble fraction insulin-like growth factor binding 0 TGCCGGGGGGACGGACGAGAG 0.687 NA 3 40 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 20994156 20994156 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr16:20994156C>T uc010vbe.1 - 49 7746 c.7746G>A c.(7744-7746)TCG>TCA p.S2582S DNAH3_uc010vbd.1_Silent_p.S17S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2582 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AATTGATCAGCGAAGGGAACA 0.483 NA 13 78 0 0 0 0 GDPD3 79153 broad.mit.edu 37 16 30124099 30124100 + Missense_Mutation DNP GC GC AA TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr16:30124099_30124100GC>AA uc002dwp.2 - 3 276_277 c.197_198GC>TT c.(196-198)CGC>CTT p.R66L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.R4L|LOC100271831_uc010vei.1_5'Flank NM_024307 NP_077283 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain 66 Extracellular (Potential).|GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding 0 GGAGGTCCGAGCGCTGGGCCAT 0.653 NA OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 84 0 0 0 0 ITGAX 3687 broad.mit.edu 37 16 31383062 31383062 + Missense_Mutation SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr16:31383062T>C uc002ebu.1 + 17 2184 c.2117T>C c.(2116-2118)CTC>CCC p.L706P ITGAX_uc002ebt.2_Missense_Mutation_p.L706P NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 706 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 GTCCGAGTCCTCGGGCTGAAG 0.632 NA 7 85 0 0 0 0 ABCC11 85320 broad.mit.edu 37 16 48226462 48226462 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr16:48226462G>A uc002eff.1 - 19 3025 c.2675C>T c.(2674-2676)TCC>TTC p.S892F ABCC11_uc002efg.1_Missense_Mutation_p.S892F|ABCC11_uc002efh.1_Missense_Mutation_p.S892F|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 892 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CAGGGCCGTGGATGCCTTCCT 0.562 NA Cerumen_Type 10 79 0 0 0 0 CDYL2 124359 broad.mit.edu 37 16 80638322 80638322 + Missense_Mutation SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr16:80638322A>G uc002ffs.2 - 7 1589 c.1484T>C c.(1483-1485)CTT>CCT p.L495P NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 495 nucleus catalytic activity|protein binding central_nervous_system(1) 1 GTAGCTGAAAAGGGAGTCAAG 0.552 NA 3 129 0 0 0 0 ZNF276 92822 broad.mit.edu 37 16 89789017 89789017 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr16:89789017C>T uc002fos.3 + 2 381 c.284C>T c.(283-285)TCC>TTC p.S95F C16orf7_uc002fol.1_5'Flank|C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.S20F|ZNF276_uc002foq.3_Missense_Mutation_p.S20F|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a 95 ZAD. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CGCAGCATCTCCGAGAGGGCG 0.667 NA 10 94 0 0 0 0 CAMTA2 23125 broad.mit.edu 37 17 4873662 4873662 + Missense_Mutation SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr17:4873662T>C uc002gah.1 - 17 3086 c.2978A>G c.(2977-2979)GAC>GGC p.D993G SPAG7_uc002gae.2_5'Flank|SPAG7_uc002gaf.2_5'Flank|CAMTA2_uc010cku.1_Missense_Mutation_p.D1016G|CAMTA2_uc002gag.1_Missense_Mutation_p.D992G|CAMTA2_uc002gai.1_Missense_Mutation_p.D995G|CAMTA2_uc010ckv.1_Missense_Mutation_p.D640G NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 993 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 GGGGAAATGGTCCACATTCTC 0.602 NA 3 108 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A rs121913344 TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr17:7577022G>A uc002gim.2 - 8 1110 c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCTTACCTCGCTTAGTGCTC 0.562 R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 75 0 0 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274379 39274379 + Silent SNP G G A rs411996 by1000genomes TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr17:39274379G>A uc002hvz.2 - 1 228 c.189C>T c.(187-189)ACC>ACT p.T63T NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 63 8.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GGCGGCAGCAGGTGGGCTGGC 0.657 NA 9 94 0 0 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48597049 48597049 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr17:48597049G>A uc010wmr.1 + 7 1108 c.946G>A c.(946-948)GAG>AAG p.E316K MYCBPAP_uc002iqx.2_Missense_Mutation_p.E316K|MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 279 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) CTTGGGAGATGAGATGACAGG 0.547 NA 7 44 0 0 0 0 CA10 56934 broad.mit.edu 37 17 49825158 49825158 + Silent SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr17:49825158G>A uc002itw.3 - 4 1286 c.300C>T c.(298-300)AAC>AAT p.N100N CA10_uc002itu.3_Silent_p.N29N|CA10_uc002itv.3_Silent_p.N106N|CA10_uc002itx.3_Silent_p.N100N|CA10_uc002ity.3_Silent_p.N100N|CA10_uc002itz.2_Silent_p.N100N NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 100 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GTCTTCCAGTGTTGTACATGG 0.542 NA 11 81 0 0 0 0 INTS2 57508 broad.mit.edu 37 17 59972740 59972740 + Missense_Mutation SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr17:59972740A>G uc002izn.2 - 12 1599 c.1523T>C c.(1522-1524)GTA>GCA p.V508A INTS2_uc002izm.2_Missense_Mutation_p.V500A NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 508 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 TGGCTTAATTACAATCTAAAA 0.294 NA 4 15 0 0 0 0 MRC2 9902 broad.mit.edu 37 17 60749025 60749025 + Missense_Mutation SNP T T A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr17:60749025T>A uc002jad.2 + 7 1535 c.1133T>A c.(1132-1134)GTG>GAG p.V378E MRC2_uc002jac.2_Missense_Mutation_p.V378E NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 378 Extracellular (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 TGGGCCAATGTGAAGGTGGAG 0.632 NA 6 42 0 0 0 0 C19orf21 126353 broad.mit.edu 37 19 758519 758519 + Missense_Mutation SNP G G T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr19:758519G>T uc002lpo.2 + 2 1656 c.1573G>T c.(1573-1575)GTC>TTC p.V525F NM_173481 NP_775752 Q8IVT2 CS021_HUMAN hypothetical protein LOC126353 525 upper_aerodigestive_tract(1) 1 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) 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) AGTCCCCCATGTCTGGGGCTG 0.672 NA 17 58 1.03e-11 1.28e-11 1 0 DENND1C 79958 broad.mit.edu 37 19 6476960 6476960 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr19:6476960C>T uc002mfe.2 - 10 678 c.586G>A c.(586-588)GTG>ATG p.V196M DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_Translation_Start_Site|DENND1C_uc010xje.1_Missense_Mutation_p.V152M NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 196 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity large_intestine(1) 1 ACGGCCACCACCAGCTCCGTT 0.642 NA 12 40 0 0 0 0 ZNF177 7730 broad.mit.edu 37 19 9489013 9489013 + Missense_Mutation SNP G G C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr19:9489013G>C uc002mli.2 + 8 689 c.26G>C c.(25-27)TGG>TCG p.W9S ZNF177_uc002mlj.2_5'UTR|ZNF177_uc002mlk.2_Missense_Mutation_p.W9S NM_003451 NP_003442 Q13360 ZN177_HUMAN zinc finger protein 177 9 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTGACAACCTGGTCACAGGTA 0.507 NA 4 52 0 0 0 0 FARSA 2193 broad.mit.edu 37 19 13035607 13035607 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr19:13035607C>T uc002mvs.2 - 10 1089 c.1041G>A c.(1039-1041)CCG>CCA p.P347P FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Silent_p.P316P|FARSA_uc010dyy.1_Silent_p.P268P NM_004461 NP_004452 Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 347 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding ovary(1) 1 L-Phenylalanine(DB00120) AGTACTTGACCGGAGTGAAGG 0.632 NA 12 161 0 0 0 0 ASF1B 55723 broad.mit.edu 37 19 14247232 14247232 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr19:14247232C>T uc002mye.2 - 1 209 c.37G>A c.(37-39)GAG>AAG p.E13K uc002myf.2_5'Flank NM_018154 NP_060624 Q9NVP2 ASF1B_HUMAN anti-silencing function 1B 13 Interaction with CHAF1B.|Interaction with histone H3 (By similarity). cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus 0 CTCGGGTTCTCCAGGACCGCC 0.716 NA 13 49 0 0 0 0 ZNF676 163223 broad.mit.edu 37 19 22363559 22363559 + Missense_Mutation SNP C C G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr19:22363559C>G uc002nqs.1 - 3 1278 c.960G>C c.(958-960)TGG>TGC p.W320C NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 320 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GGCTTGAGGACCAGCTGAAGG 0.433 NA 11 105 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22939799 22939799 + Silent SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr19:22939799G>A uc010xrh.1 - 6 2532 c.2532C>T c.(2530-2532)GCC>GCT p.A844A NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GTTTCCTAAGGGCTGAGAAAT 0.348 NA 13 86 0 0 0 0 WTIP 126374 broad.mit.edu 37 19 34984493 34984493 + Nonsense_Mutation SNP G G T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr19:34984493G>T uc002nvm.2 + 5 997 c.997G>T c.(997-999)GAG>TAG p.E333* NM_001080436 NP_001073905 Wilms tumor 1 interacting protein 0 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) CGTGGACGTGGAGAACAACAT 0.617 NA 11 99 0.00829132 0.00944551 1 0 MLL4 9757 broad.mit.edu 37 19 36212436 36212436 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr19:36212436C>T uc010eei.2 + 3 2187 c.2187C>T c.(2185-2187)AAC>AAT p.N729N NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 729 Pro-rich. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCTGAGCAACGGGCCACAGA 0.662 NA 6 60 0 0 0 0 HNRNPL 3191 broad.mit.edu 37 19 39336375 39336375 + Missense_Mutation SNP C C A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr19:39336375C>A uc010xul.1 - 4 636 c.625G>T c.(625-627)GAT>TAT p.D209Y HNRNPL_uc010xum.1_Missense_Mutation_p.D76Y|HNRNPL_uc010xun.1_5'Flank NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 209 RRM 2. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) TAAAGAACATCCTGCAAAAGC 0.478 NA 5 59 0.000602214 0.000702 1 0 STRN4 29888 broad.mit.edu 37 19 47226075 47226075 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr19:47226075C>T uc002pfl.2 - 14 1931 c.1898G>A c.(1897-1899)GGC>GAC p.G633D STRN4_uc002pfm.2_Missense_Mutation_p.G640D|STRN4_uc010xyf.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 633 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) ACCGCTGCTGCCCCGGGACTC 0.627 NA 23 134 0 0 0 0 DTNB 1838 broad.mit.edu 37 2 25754408 25754408 + Missense_Mutation SNP G G C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr2:25754408G>C uc002rgh.2 - 9 1185 c.935C>G c.(934-936)ACG>AGG p.T312R DTNB_uc010yko.1_Missense_Mutation_p.T255R|DTNB_uc010ykp.1_Missense_Mutation_p.T108R|DTNB_uc002rgo.2_Missense_Mutation_p.T133R|DTNB_uc002rgi.2_Missense_Mutation_p.T312R|DTNB_uc002rgj.2_Missense_Mutation_p.T312R|DTNB_uc002rgk.2_Missense_Mutation_p.T312R|DTNB_uc002rgl.2_Missense_Mutation_p.T312R|DTNB_uc002rgq.2_Missense_Mutation_p.T312R|DTNB_uc002rgm.2_Missense_Mutation_p.T312R|DTNB_uc002rgn.2_Missense_Mutation_p.T108R|DTNB_uc002rgr.1_Missense_Mutation_p.T301R|DTNB_uc010ykq.1_Missense_Mutation_p.T165R NM_021907 NP_068707 O60941 DTNB_HUMAN dystrobrevin, beta isoform 1 312 cytoplasm calcium ion binding|zinc ion binding large_intestine(2)|ovary(2) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGTTCTCTCGTGGGTACACA 0.438 NA 16 104 0 0 0 0 SOS1 6654 broad.mit.edu 37 2 39251221 39251221 + Missense_Mutation SNP T T A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr2:39251221T>A uc002rrk.3 - 9 1173 c.1132A>T c.(1132-1134)ACA>TCA p.T378S SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.T110S NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 378 DH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) AGCAAAGCTGTTATTGCTTGT 0.303 NA Noonan_syndrome 4 49 0 0 0 0 SLC8A1 6546 broad.mit.edu 37 2 40397431 40397431 + Silent SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr2:40397431G>A uc002rrx.2 - 6 2052 c.2028C>T c.(2026-2028)ATC>ATT p.I676I uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.I671I|SLC8A1_uc002rrz.2_Silent_p.I663I|SLC8A1_uc002rsa.2_Intron|SLC8A1_uc002rsd.3_Intron|SLC8A1_uc002rsb.1_Silent_p.I668I NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 676 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CTGCAATGGTGATTACAGTAG 0.433 NA 8 56 0 0 0 0 RGPD4 285190 broad.mit.edu 37 2 108487680 108487680 + Missense_Mutation SNP G G A rs2919157 TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr2:108487680G>A uc010ywk.1 + 20 3302 c.3220G>A c.(3220-3222)GTA>ATA p.V1074I RGPD4_uc002tdu.2_Missense_Mutation_p.V261I|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1074 RanBD1 1. intracellular transport binding skin(2) 2 TGATGCTGAGGTAAGGCAGTG 0.383 NA 71 513 0 0 0 0 SULT1C2 6819 broad.mit.edu 37 2 108924864 108924864 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr2:108924864G>A uc002tdy.2 + 8 1288 c.835G>A c.(835-837)GAA>AAA p.E279K SULT1C2_uc002tdx.2_Missense_Mutation_p.E290K|SULT1C2_uc010ywq.1_Missense_Mutation_p.E293K NM_001056 NP_001047 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 1 279 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity ovary(1) 1 GAGGTTTGATGAAATCTATAG 0.413 NA 9 86 0 0 0 0 ERCC3 2071 broad.mit.edu 37 2 128029027 128029027 + Silent SNP T T A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr2:128029027T>A uc002toh.1 - 12 1925 c.1830A>T c.(1828-1830)GTA>GTT p.V610V ERCC3_uc002toe.1_Silent_p.V365V|ERCC3_uc002tof.1_Silent_p.V546V|ERCC3_uc002tog.1_Silent_p.V546V NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 610 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) AAGTGTCACCTACCTACAGAA 0.413 NA Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 8 118 0 0 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882145 228882145 + Missense_Mutation SNP C C G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr2:228882145C>G uc002vpq.2 - 7 3472 c.3425G>C c.(3424-3426)AGA>ACA p.R1142T SPHKAP_uc002vpp.2_Missense_Mutation_p.R1142T|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1142T NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1142 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTCAAATCCTCTCCCTTCATT 0.527 NA 9 46 0 0 0 0 GIGYF2 26058 broad.mit.edu 37 2 233675989 233675989 + Missense_Mutation SNP A A C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr2:233675989A>C uc002vti.3 + 19 2271 c.1934A>C c.(1933-1935)AAA>ACA p.K645T GIGYF2_uc010zmj.1_Missense_Mutation_p.K645T|GIGYF2_uc002vtg.2_Missense_Mutation_p.K639T|GIGYF2_uc002vtj.3_Missense_Mutation_p.K666T|GIGYF2_uc002vtk.3_Missense_Mutation_p.K645T|GIGYF2_uc002vth.3_Missense_Mutation_p.K639T|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.K476T|GIGYF2_uc002vtq.3_5'UTR NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 645 Gln-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) CAACAGCAGAAAGCAGCACTG 0.423 NA 7 60 0 0 0 0 ESPNL 339768 broad.mit.edu 37 2 239040108 239040108 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr2:239040108G>A uc002vxq.3 + 9 2863 c.2753G>A c.(2752-2754)GGC>GAC p.G918D ESPNL_uc010fyw.2_Missense_Mutation_p.G614D NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN espin-like 918 pancreas(1) 1 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) TGGACCGACGGCTTCGAGGAC 0.706 NA 3 35 0 0 0 0 ENTPD6 955 broad.mit.edu 37 20 25188018 25188018 + Missense_Mutation SNP A A C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr20:25188018A>C uc002wuj.2 + 3 541 c.361A>C c.(361-363)ACC>CCC p.T121P ENTPD6_uc010zsy.1_Missense_Mutation_p.T121P|ENTPD6_uc010gdj.1_Missense_Mutation_p.T93P|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Missense_Mutation_p.T104P|ENTPD6_uc010zta.1_Missense_Mutation_p.T121P|ENTPD6_uc002wun.2_Missense_Mutation_p.T121P|ENTPD6_uc002wuk.2_Missense_Mutation_p.T120P|ENTPD6_uc002wul.2_Missense_Mutation_p.T120P|ENTPD6_uc010ztb.1_Missense_Mutation_p.T93P|ENTPD6_uc010ztc.1_Missense_Mutation_p.T93P|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010ztd.1_5'Flank NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 121 Lumenal (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 CTTCCAGTTCACCCGGCCCCC 0.587 NA 9 49 0 0 0 0 NINL 22981 broad.mit.edu 37 20 25456758 25456758 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr20:25456758C>T uc002wux.1 - 17 3243 c.3169G>A c.(3169-3171)GAC>AAC p.D1057N NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 1057 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GTTTCCATGTCATCCTTCTCT 0.532 NA 33 108 0 0 0 0 ZNF334 55713 broad.mit.edu 37 20 45131154 45131154 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr20:45131154C>T uc002xsc.2 - 5 1008 c.824G>A c.(823-825)CGT>CAT p.R275H ZNF334_uc002xsa.2_Missense_Mutation_p.R298H|ZNF334_uc002xsb.2_Missense_Mutation_p.R237H|ZNF334_uc002xsd.2_Missense_Mutation_p.R237H|ZNF334_uc010ghl.2_Missense_Mutation_p.R274H NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 275 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) TGTCTTCACACGAAAAGTTTT 0.413 NA 15 113 0 0 0 0 ZNF831 128611 broad.mit.edu 37 20 57767313 57767313 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr20:57767313C>T uc002yan.2 + 1 1239 c.1239C>T c.(1237-1239)TCC>TCT p.S413S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 413 Potential. intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) AGCTCATCTCCCACAACCAGG 0.532 NA 5 17 0 0 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072462 17072462 + Missense_Mutation SNP T T A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr22:17072462T>A uc002zlp.1 - 1 1239 c.979A>T c.(979-981)AGT>TGT p.S327C NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 327 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AACACCTCACTCAGGTAAATG 0.577 NA 28 221 0 0 0 0 LZTR1 8216 broad.mit.edu 37 22 21348279 21348279 + Missense_Mutation SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr22:21348279A>G uc002zto.2 + 13 1523 c.1420A>G c.(1420-1422)ATC>GTC p.I474V LZTR1_uc002ztn.2_Missense_Mutation_p.I433V|LZTR1_uc011ahy.1_Missense_Mutation_p.I455V|LZTR1_uc010gsr.1_Missense_Mutation_p.I345V|LZTR1_uc002ztp.2_5'Flank NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 474 BTB 1. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TCGCAGGAAGATCACGCAGGC 0.647 NA 6 31 0 0 0 0 AP1B1 162 broad.mit.edu 37 22 29754833 29754833 + Missense_Mutation SNP T T A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr22:29754833T>A uc003afj.2 - 5 591 c.407A>T c.(406-408)TAT>TTT p.Y136F AP1B1_uc003afi.2_Missense_Mutation_p.Y136F|AP1B1_uc003afk.2_Missense_Mutation_p.Y136F|AP1B1_uc003afl.2_Missense_Mutation_p.Y136F NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 136 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 CTTGCGCACATATGGATCCTC 0.602 NA 11 40 0 0 0 0 MPPED1 758 broad.mit.edu 37 22 43830954 43830954 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr22:43830954G>A uc011apv.1 + 3 448 c.225G>A c.(223-225)ATG>ATA p.M75I MPPED1_uc011apw.1_5'UTR|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.M75I|MPPED1_uc011apz.1_Missense_Mutation_p.M108I NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 75 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) CTCCCTGCAGGGTGGACCCGG 0.647 NA 15 150 0 0 0 0 PLXNB2 23654 broad.mit.edu 37 22 50720046 50720046 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr22:50720046C>T uc003bkv.3 - 21 3577 c.3471G>A c.(3469-3471)CCG>CCA p.P1157P PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.P142P NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1157 Extracellular (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCCGCTTGGGCGGGGGCTGCA 0.692 NA 10 67 0 0 0 0 LRRN1 57633 broad.mit.edu 37 3 3887531 3887531 + Silent SNP G G C rs147557425 by1000genomes TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr3:3887531G>C uc003bpt.3 + 2 1967 c.1206G>C c.(1204-1206)CCG>CCC p.P402P SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 402 LRRCT.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) GTGCCATGCCGCCCGAATATA 0.483 NA 26 79 0 0 0 0 SLC6A11 6538 broad.mit.edu 37 3 10974928 10974928 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr3:10974928G>A uc003bvz.2 + 11 1497 c.1463G>A c.(1462-1464)GGC>GAC p.G488D NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter 488 Helical; Name=10; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.229) ATCTGCATCGGCTGGGTGTAT 0.582 NA 4 171 0 0 0 0 MITF 4286 broad.mit.edu 37 3 70008500 70008500 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr3:70008500C>T uc003dnz.2 + 9 1206 c.1090C>T c.(1090-1092)CGC>TGC p.R364C MITF_uc011bgb.1_Missense_Mutation_p.R312C|MITF_uc003doa.2_Missense_Mutation_p.R363C|MITF_uc003dob.2_Missense_Mutation_p.R348C|MITF_uc003dod.2_Missense_Mutation_p.R339C|MITF_uc003doe.2_Missense_Mutation_p.R257C|MITF_uc003dof.2_Missense_Mutation_p.R263C NM_198159 NP_937802 O75030 MITF_HUMAN microphthalmia-associated transcription factor 370 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ovary(2) 2 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) AGAACAGCAACGCGCAAAAGA 0.463 NA A melanoma Waardenburg syndrome type 2|Tietz syndrome 8 35 0 0 0 0 OR5H14 403273 broad.mit.edu 37 3 97868271 97868271 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr3:97868271C>T uc003dsg.1 + 1 42 c.42C>T c.(40-42)CTC>CTT p.L14L NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AGTTTGTTCTCACAGGATTTT 0.403 NA 18 167 0 0 0 0 ABI3BP 25890 broad.mit.edu 37 3 100469363 100469363 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr3:100469363C>T uc003dun.2 - 35 3289 c.3204G>A c.(3202-3204)GGG>GGA p.G1068G ABI3BP_uc003duj.2_Silent_p.G648G|ABI3BP_uc003duk.2_Silent_p.G777G|ABI3BP_uc003dul.2_Silent_p.G898G|ABI3BP_uc011bhd.1_Silent_p.G1022G|ABI3BP_uc003dum.2_Silent_p.G479G NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 1068 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 GAATTGTAGTCCCACATTCAT 0.388 NA 9 130 0 0 0 0 MORC1 27136 broad.mit.edu 37 3 108746688 108746688 + Silent SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr3:108746688G>A uc003dxl.2 - 17 1701 c.1614C>T c.(1612-1614)AGC>AGT p.S538S MORC1_uc011bhn.1_Silent_p.S538S NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 538 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 GTGATATTGTGCTCATGGTGC 0.398 NA 17 79 0 0 0 0 DPPA2 151871 broad.mit.edu 37 3 109023367 109023367 + Missense_Mutation SNP G G T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr3:109023367G>T uc003dxo.2 - 7 1056 c.809C>A c.(808-810)TCC>TAC p.S270Y NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 270 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 TATGCCTGGGGATGGGAAAAT 0.478 NA 17 53 9.17e-09 1.13e-08 1 0 DPPA4 55211 broad.mit.edu 37 3 109047778 109047778 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr3:109047778C>T uc003dxq.3 - 6 892 c.837G>A c.(835-837)CCG>CCA p.P279P DPPA4_uc011bho.1_Missense_Mutation_p.A181T NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 279 nucleus protein binding upper_aerodigestive_tract(1) 1 CTTCAAGGTGCGGGGGTGGAA 0.463 NA 12 40 0 0 0 0 GOLGB1 2804 broad.mit.edu 37 3 121414052 121414052 + Missense_Mutation SNP G G C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr3:121414052G>C uc003eei.3 - 13 5429 c.5303C>G c.(5302-5304)TCT>TGT p.S1768C GOLGB1_uc010hrc.2_Missense_Mutation_p.S1773C|GOLGB1_uc003eej.3_Missense_Mutation_p.S1734C|GOLGB1_uc011bjm.1_Missense_Mutation_p.S1654C|GOLGB1_uc010hrd.1_Missense_Mutation_p.S1732C NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1768 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) AGCTTGTTTAGATACATTACC 0.393 NA 20 226 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155314050 155314050 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr3:155314050C>T uc011bok.1 - 2 438 c.161G>A c.(160-162)CGA>CAA p.R54Q PLCH1_uc011boj.1_Missense_Mutation_p.R54Q|PLCH1_uc011bol.1_Missense_Mutation_p.R36Q NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 54 PH. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCTAGAGGGTCGCCATCGGAG 0.498 NA 55 195 0 0 0 0 SI 6476 broad.mit.edu 37 3 164760860 164760860 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr3:164760860G>A uc003fei.2 - 17 2053 c.1991C>T c.(1990-1992)TCT>TTT p.S664F NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 664 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATATCCGTCAGAATTATGGTT 0.358 NA HNSCC(35;0.089) 14 73 0 0 0 0 CCDC149 91050 broad.mit.edu 37 4 24854761 24854761 + Missense_Mutation SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr4:24854761T>C uc011bxr.1 - 5 449 c.305A>G c.(304-306)AAT>AGT p.N102S CCDC149_uc003grc.2_Missense_Mutation_p.N102S|CCDC149_uc003grb.2_RNA|CCDC149_uc003grd.2_Missense_Mutation_p.N102S|CCDC149_uc003gre.2_Missense_Mutation_p.N47S|CCDC149_uc011bxq.1_5'UTR NM_173463 NP_775734 B4DZG3 B4DZG3_HUMAN coiled-coil domain containing 149 isoform 1 102 0 Breast(46;0.173) CAGATGTTTATTTCGGTCCTG 0.413 NA 16 83 0 0 0 0 PLK4 10733 broad.mit.edu 37 4 128807211 128807211 + Missense_Mutation SNP A A T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr4:128807211A>T uc003ifo.2 + 5 931 c.686A>T c.(685-687)GAA>GTA p.E229V PLK4_uc011cgs.1_Missense_Mutation_p.E197V|PLK4_uc011cgt.1_Missense_Mutation_p.E188V NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 229 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 GCAGATTATGAAATGCCATCT 0.398 NA 10 131 0 0 0 0 ZNF827 152485 broad.mit.edu 37 4 146807157 146807157 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr4:146807157C>T uc003ikn.2 - 4 1468 c.1420G>A c.(1420-1422)GTC>ATC p.V474I ZNF827_uc003ikm.2_Missense_Mutation_p.V474I|ZNF827_uc010iox.2_Missense_Mutation_p.V124I NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) GATCCCTTGACATCTGGGTCT 0.567 NA 9 65 0 0 0 0 FSTL5 56884 broad.mit.edu 37 4 162306902 162306902 + Silent SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr4:162306902G>A uc003iqh.2 - 16 2977 c.2541C>T c.(2539-2541)GCC>GCT p.A847A FSTL5_uc003iqi.2_Silent_p.A846A|FSTL5_uc010iqv.2_Silent_p.A837A|uc010iqu.1_Intron NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 847 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AGGGTTTTTAGGCATCTCCAA 0.338 NA 10 81 0 0 0 0 ACSL1 2180 broad.mit.edu 37 4 185681655 185681655 + Splice_Site SNP C C T rs111329654 TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr4:185681655C>T uc003iww.2 - 18 1933 c.1639_splice c.e18-1 p.N547_splice ACSL1_uc011ckm.1_Splice_Site_p.N376_splice|ACSL1_uc003iwt.1_Splice_Site_p.N547_splice|ACSL1_uc003iwu.1_Splice_Site_p.N547_splice|ACSL1_uc011ckn.1_Splice_Site_p.N513_splice|ACSL1_uc003iws.1_Splice_Site_p.N107_splice NM_001995 NP_001986 P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity ovary(2) 2 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGGTGCCATTCTGTTGATCAG 0.403 NA 44 337 0 0 0 0 DHX29 54505 broad.mit.edu 37 5 54565331 54565331 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr5:54565331C>T uc003jpx.2 - 21 3324 c.3204G>A c.(3202-3204)CCG>CCA p.P1068P DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 1068 ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) GTTGGCCCAACGGAGTCAGTT 0.443 NA 7 32 0 0 0 0 IPO11 51194 broad.mit.edu 37 5 61779883 61779883 + Missense_Mutation SNP C C G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr5:61779883C>G uc003jtc.2 + 11 1258 c.1068C>G c.(1066-1068)TTC>TTG p.F356L IPO11_uc011cqr.1_Missense_Mutation_p.F396L|IPO11_uc003jtb.1_Missense_Mutation_p.F356L NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 356 HEAT 3. cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) AGATGGCATTCTTCACATATC 0.353 NA 9 62 0 0 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603276 140603276 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr5:140603276G>A uc003ljb.2 + 1 199 c.199G>A c.(199-201)GTG>ATG p.V67M PCDHB14_uc011dal.1_Intron NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 67 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCCCGGGTAGTGTCTGATGA 0.493 NA 14 106 0 0 0 0 POU4F3 5459 broad.mit.edu 37 5 145719962 145719962 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr5:145719962C>T uc003loa.2 + 2 1061 c.972C>T c.(970-972)AAC>AAT p.N324N NM_002700 NP_002691 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 324 Homeobox. sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTTCTGCAACCAGAGACAGA 0.552 NA 7 74 0 0 0 0 KIAA0319 9856 broad.mit.edu 37 6 24564520 24564520 + Missense_Mutation SNP G G C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:24564520G>C uc011djo.1 - 15 2578 c.2341C>G c.(2341-2343)CTG>GTG p.L781V KIAA0319_uc011djp.1_Missense_Mutation_p.L736V|KIAA0319_uc003neh.1_Missense_Mutation_p.L781V|KIAA0319_uc011djq.1_Missense_Mutation_p.L772V|KIAA0319_uc011djr.1_Missense_Mutation_p.L781V|KIAA0319_uc010jpt.1_Missense_Mutation_p.L192V NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 781 PKD 5.|Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 CCCTCCACCAGATTCGTAAGC 0.567 NA 14 86 0 0 0 0 HIST1H2BE 8344 broad.mit.edu 37 6 26184294 26184294 + Missense_Mutation SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:26184294A>G uc003ngt.2 + 1 271 c.271A>G c.(271-273)ACC>GCC p.T91A NM_003523 NP_003514 P62807 H2B1C_HUMAN histone cluster 1, H2be 91 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 CTCGACCATCACCTCCAGGGA 0.607 NA 11 134 0 0 0 0 TRIM15 89870 broad.mit.edu 37 6 30140093 30140093 + Nonsense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:30140093G>A uc010jrx.2 + 7 1844 c.1365G>A c.(1363-1365)TGG>TGA p.W455* NM_033229 NP_150232 Q9C019 TRI15_HUMAN tripartite motif protein 15 455 B30.2/SPRY. mesodermal cell fate determination intracellular zinc ion binding 0 TTGCCGTCTGGAAAAAAGGTT 0.637 NA 10 54 0 0 0 0 GLO1 2739 broad.mit.edu 37 6 38649810 38649810 + Silent SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:38649810T>C uc003ooc.2 - 5 566 c.444A>G c.(442-444)AAA>AAG p.K148K NM_006708 NP_006699 Q04760 LGUL_HUMAN glyoxalase I 148 anti-apoptosis|carbohydrate metabolic process cytoplasm lactoylglutathione lyase activity|metal ion binding ovary(1) 1 Glutathione(DB00143) TCTTCACAAATTTGACTCCCA 0.413 NA 10 75 0 0 0 0 ZNF318 24149 broad.mit.edu 37 6 43322834 43322834 + Silent SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:43322834T>C uc003oux.2 - 4 2316 c.2238A>G c.(2236-2238)CCA>CCG p.P746P ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 746 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TTGGGGCAGATGGGGCTGATG 0.512 NA 17 81 0 0 0 0 CRISP3 10321 broad.mit.edu 37 6 49704206 49704206 + Silent SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:49704206A>G uc003ozs.2 - 3 102 c.87T>C c.(85-87)ACT>ACC p.T29T NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 29 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TTAACAAAGCAGTAAAAGCGG 0.378 NA 23 190 0 0 0 0 COL21A1 81578 broad.mit.edu 37 6 55925556 55925556 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:55925556C>T uc003pcs.2 - 27 2622 c.2390G>A c.(2389-2391)TGC>TAC p.C797Y COL21A1_uc010jzz.2_Missense_Mutation_p.C182Y|COL21A1_uc011dxg.1_Missense_Mutation_p.C170Y|COL21A1_uc011dxh.1_Missense_Mutation_p.C182Y|COL21A1_uc003pcr.2_Missense_Mutation_p.C154Y NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 797 cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TACATCTGTGCAAACTTGTCG 0.299 NA 7 66 0 0 0 0 FAM135A 57579 broad.mit.edu 37 6 71232224 71232224 + Silent SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:71232224A>G uc003pfj.2 + 11 1171 c.1038A>G c.(1036-1038)AGA>AGG p.R346R FAM135A_uc003pfi.2_Silent_p.R346R|FAM135A_uc003pfh.2_Silent_p.R329R|FAM135A_uc003pfk.2_Silent_p.R372R|FAM135A_uc003pfl.2_Silent_p.R209R|FAM135A_uc003pfn.2_5'Flank|FAM135A_uc003pfo.1_5'Flank NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 346 central_nervous_system(1) 1 AGGTACGCAGATTTTCTGAGG 0.348 NA 14 144 0 0 0 0 SIM1 6492 broad.mit.edu 37 6 100838427 100838427 + Missense_Mutation SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:100838427T>C uc003pqj.3 - 11 2318 c.2111A>G c.(2110-2112)CAG>CGG p.Q704R SIM1_uc010kcu.2_Missense_Mutation_p.Q704R NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 704 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTCAAAATACTGCCGGTGAGA 0.448 NA 11 91 0 0 0 0 SIM1 6492 broad.mit.edu 37 6 100901656 100901656 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:100901656C>T uc003pqj.3 - 2 447 c.240G>A c.(238-240)CTG>CTA p.L80L SIM1_uc010kcu.2_Silent_p.L80L NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 80 PAS 1. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GATGGGAGCCCAGTTCTCGGC 0.587 NA 15 92 0 0 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762312 130762312 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:130762312G>A uc003qca.2 + 3 1616 c.745G>A c.(745-747)GAC>AAC p.D249N TMEM200A_uc010kfh.2_Missense_Mutation_p.D249N|TMEM200A_uc010kfi.2_Missense_Mutation_p.D249N|TMEM200A_uc003qcb.2_Missense_Mutation_p.D249N NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 249 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TTTGCTCTCTGACAGCTCTGT 0.463 NA 10 82 0 0 0 0 AHI1 54806 broad.mit.edu 37 6 135778701 135778701 + Missense_Mutation SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:135778701A>G uc003qgi.2 - 9 1466 c.1082T>C c.(1081-1083)ATT>ACT p.I361T AHI1_uc003qgh.2_Missense_Mutation_p.I361T|AHI1_uc003qgj.2_Missense_Mutation_p.I361T|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.I361T NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 361 adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TGGGTGAGAAATCATAAAATC 0.358 NA 15 64 0 0 0 0 TMEM106B 54664 broad.mit.edu 37 7 12258148 12258148 + Splice_Site SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr7:12258148G>A uc011jxk.1 + 4 681 c.281_splice c.e4+1 p.T94_splice TMEM106B_uc003ssh.2_Splice_Site_p.T94_splice NM_018374 NP_060844 Q9NUM4 T106B_HUMAN transmembrane protein 106B integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) CAAGAAGAACGTAAGTGATTC 0.279 NA 10 30 0 0 0 0 ANKMY2 57037 broad.mit.edu 37 7 16640498 16640498 + Missense_Mutation SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr7:16640498T>C uc003sti.2 - 10 1414 c.1214A>G c.(1213-1215)AAG>AGG p.K405R ANKMY2_uc010ktz.2_RNA NM_020319 NP_064715 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 405 cilium zinc ion binding central_nervous_system(1) 1 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) ATTGGAATCCTTTTGAGAGAT 0.423 NA 15 52 0 0 0 0 BMPER 168667 broad.mit.edu 37 7 34118721 34118721 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr7:34118721G>A uc011kap.1 + 12 1445 c.1331G>A c.(1330-1332)CGC>CAC p.R444H NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 444 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 AACGGCTCGCGCATCGCGCTC 0.662 NA 4 102 0 0 0 0 ELMO1 9844 broad.mit.edu 37 7 37264509 37264509 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr7:37264509C>T uc003tfk.1 - 9 983 c.676G>A c.(676-678)GGC>AGC p.G226S ELMO1_uc011kbc.1_Missense_Mutation_p.G130S|ELMO1_uc010kxg.1_Missense_Mutation_p.G226S NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 226 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 ATGAGCTGGCCGATGGTGATC 0.532 NA 24 73 0 0 0 0 HECW1 23072 broad.mit.edu 37 7 43581558 43581558 + Silent SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr7:43581558A>G uc003tid.1 + 26 4814 c.4209A>G c.(4207-4209)TTA>TTG p.L1403L HECW1_uc011kbi.1_Silent_p.L1369L NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1403 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CAGACATCTTAGACCTCACTT 0.378 NA 13 65 0 0 0 0 DBNL 28988 broad.mit.edu 37 7 44089842 44089842 + Missense_Mutation SNP A A C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr7:44089842A>C uc003tjp.3 + 2 200 c.102A>C c.(100-102)GAA>GAC p.E34D DBNL_uc003tjn.2_5'UTR|DBNL_uc003tjo.3_Missense_Mutation_p.E34D|DBNL_uc003tjr.3_5'UTR|DBNL_uc003tjq.3_Missense_Mutation_p.E34D|DBNL_uc011kbm.1_Missense_Mutation_p.E34D|DBNL_uc011kbn.1_Intron|DBNL_uc011kbo.1_5'UTR|DBNL_uc011kbp.1_Missense_Mutation_p.E34D|DBNL_uc011kbq.1_5'UTR|DBNL_uc011kbr.1_5'UTR|DBNL_uc011kbs.1_5'Flank NM_001014436 NP_001014436 Q9UJU6 DBNL_HUMAN drebrin-like isoform b 34 ADF-H. activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding skin(1) 1 TTACCTATGAAGGCAACAGCA 0.542 NA 3 121 0 0 0 0 STEAP4 79689 broad.mit.edu 37 7 87913347 87913347 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr7:87913347C>T uc003ujs.2 - 2 343 c.238G>A c.(238-240)GCA>ACA p.A80T STEAP4_uc010lek.2_Missense_Mutation_p.A80T|STEAP4_uc003ujt.2_Missense_Mutation_p.A80T NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 80 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) CTGTGGATTGCTATGATTATG 0.413 NA 11 94 0 0 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965755 88965755 + Missense_Mutation SNP C C A rs76889726 by1000genomes TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr7:88965755C>A uc011khi.1 + 4 3997 c.3459C>A c.(3457-3459)GAC>GAA p.D1153E NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1153 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTTCTCCTGACGAAATAGATA 0.418 NA HNSCC(36;0.09) 6 64 5.94e-07 7.2e-07 1 0 ZAN 7455 broad.mit.edu 37 7 100358081 100358081 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr7:100358081G>A uc003uwj.2 + 19 3929 c.3764G>A c.(3763-3765)CGG>CAG p.R1255Q ZAN_uc003uwk.2_Missense_Mutation_p.R1255Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'Flank NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1255 VWFD 1.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCAAGCGGGCGGTTTGTGGAG 0.587 NA 14 95 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 4494972 4494972 + Missense_Mutation SNP C C G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr8:4494972C>G uc011kwk.1 - 2 584 c.194G>C c.(193-195)GGC>GCC p.G65A NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 65 Extracellular (Potential).|CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATTGCGCTCGCCCGTGATGAT 0.473 NA 18 93 0 0 0 0 TRPA1 8989 broad.mit.edu 37 8 72938196 72938196 + Missense_Mutation SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr8:72938196A>G uc003xza.2 - 25 3225 c.3050T>C c.(3049-3051)TTC>TCC p.F1017S uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 1017 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TGTACTTACGAATAACATCCC 0.413 NA 7 57 0 0 0 0 CNGB3 54714 broad.mit.edu 37 8 87645051 87645051 + Missense_Mutation SNP A A C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr8:87645051A>C uc003ydx.2 - 11 1295 c.1249T>G c.(1249-1251)TTA>GTA p.L417V CNGB3_uc010maj.2_Missense_Mutation_p.L279V NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 417 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 ATTTCAAATAAAGTTTGTGGT 0.343 NA 17 33 0 0 0 0 TRPM6 140803 broad.mit.edu 37 9 77370356 77370356 + Nonsense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr9:77370356G>A uc004ajl.1 - 28 5057 c.4819C>T c.(4819-4821)CAG>TAG p.Q1607* TRPM6_uc004ajk.1_Nonsense_Mutation_p.Q1602*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Nonsense_Mutation_p.Q558*|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Nonsense_Mutation_p.Q563* NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1607 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GGATTCAACTGGTCACTCTGA 0.428 NA 3 81 0 0 0 0 C9orf3 84909 broad.mit.edu 37 9 97535328 97535328 + Missense_Mutation SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr9:97535328T>C uc004ava.2 + 2 977 c.842T>C c.(841-843)CTT>CCT p.L281P C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.L281P|C9orf3_uc004auy.2_Missense_Mutation_p.L281P|C9orf3_uc004auz.1_Missense_Mutation_p.L281P NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 281 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AACAGGGCCCTTTTTCCATGC 0.463 NA 3 165 0 0 0 0 ZNF510 22869 broad.mit.edu 37 9 99522337 99522337 + Missense_Mutation SNP T T C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr9:99522337T>C uc004awn.1 - 6 964 c.775A>G c.(775-777)ATT>GTT p.I259V ZNF510_uc004awo.1_Missense_Mutation_p.I259V NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN zinc finger protein 510 259 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) GCTTTTCCAATTTTATTACAT 0.303 NA 6 50 0 0 0 0 TEX10 54881 broad.mit.edu 37 9 103070951 103070951 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr9:103070951C>T uc004bas.2 - 13 2511 c.2296G>A c.(2296-2298)GTA>ATA p.V766I TEX10_uc011lvf.1_Missense_Mutation_p.V605I|TEX10_uc011lvg.1_Missense_Mutation_p.V769I NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 766 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TCAGGAATTACAGTCAACCCA 0.428 NA 15 55 0 0 0 0 ZNF483 158399 broad.mit.edu 37 9 114305147 114305147 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr9:114305147C>T uc004bff.2 + 6 2156 c.1932C>T c.(1930-1932)TTC>TTT p.F644F ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 644 C2H2-type 8. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 AGAAAGCCTTCCCAACCCATT 0.388 NA 9 48 0 0 0 0 CRB2 286204 broad.mit.edu 37 9 126137517 126137517 + Silent SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr9:126137517C>T uc004bnx.1 + 12 3620 c.3528C>T c.(3526-3528)CCC>CCT p.P1176P NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 1176 Extracellular (Potential).|EGF-like 15. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CCACTCTCCCCTGTGAAGCCA 0.627 NA 8 91 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139400000 139400000 + Nonsense_Mutation SNP C C A rs147841035 by1000genomes TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr9:139400000C>A uc004chz.2 - 25 4348 c.4348G>T c.(4348-4350)GAG>TAG p.E1450* NOTCH1_uc004cia.1_Nonsense_Mutation_p.E680* NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1450 Extracellular (Potential).|LNR 1. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TCGGGCAGCTCGCACGCCTCC 0.677 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 7 47 0.000442599 0.000520476 1 0 ALAS2 212 broad.mit.edu 37 X 55042039 55042039 + Missense_Mutation SNP A A C TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chrX:55042039A>C uc004dua.3 - 8 1278 c.1140T>G c.(1138-1140)CAT>CAG p.H380Q ALAS2_uc004dub.3_Missense_Mutation_p.H367Q|ALAS2_uc004dud.3_Missense_Mutation_p.H343Q NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 380 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) TGTCAATCTTATGCATAATTC 0.517 NA 10 39 0 0 0 0 TAF1 6872 broad.mit.edu 37 X 70604857 70604857 + Silent SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chrX:70604857A>G uc004dzu.3 + 14 2232 c.2181A>G c.(2179-2181)ACA>ACG p.T727T BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.T748T NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 727 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) ACTGCCATACATCTCCTTTCC 0.393 NA 11 38 0 0 0 0 RGAG1 57529 broad.mit.edu 37 X 109696314 109696314 + Missense_Mutation SNP G G A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chrX:109696314G>A uc004eor.1 + 3 2715 c.2469G>A c.(2467-2469)ATG>ATA p.M823I RGAG1_uc011msr.1_Missense_Mutation_p.M823I NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 823 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CTCCACAAATGACAGCCACAG 0.532 NA 31 91 0 0 0 0 ATP11C 286410 broad.mit.edu 37 X 138886713 138886713 + Missense_Mutation SNP C C A TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chrX:138886713C>A uc004faz.2 - 6 580 c.481G>T c.(481-483)GAT>TAT p.D161Y ATP11C_uc004fba.2_Missense_Mutation_p.D161Y NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 161 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) AGAATAAGATCACAGGGAAAG 0.368 NA 17 81 1.56e-12 1.95e-12 1 0 SLITRK2 84631 broad.mit.edu 37 X 144904539 144904539 + Missense_Mutation SNP C C T TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chrX:144904539C>T uc004fcd.2 + 5 1586 c.596C>T c.(595-597)GCT>GTT p.A199V SLITRK2_uc010nsp.2_Missense_Mutation_p.A199V|SLITRK2_uc010nso.2_Missense_Mutation_p.A199V|SLITRK2_uc011mwq.1_Missense_Mutation_p.A199V|SLITRK2_uc011mwr.1_Missense_Mutation_p.A199V|SLITRK2_uc011mws.1_Missense_Mutation_p.A199V|SLITRK2_uc004fcg.2_Missense_Mutation_p.A199V|SLITRK2_uc011mwt.1_Missense_Mutation_p.A199V NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 199 Extracellular (Potential).|LRR 6. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) ATGCCTTTTGCTGGCGTCCTT 0.483 NA 22 79 0 0 0 0 TAF10 6881 broad.mit.edu 37 11 6632171 6632173 + In_Frame_Del DEL CTT CTT - TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr11:6632171_6632173delCTT uc001mej.1 - 5 662_664 c.637_639delAAG c.(637-639)AAGdel p.K213del NM_006284 NP_006275 Q12962 TAF10_HUMAN TBP-related factor 10 213 histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex estrogen receptor binding|RNA polymerase binding|transcription coactivator activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGTAGTGCGGCTTCTTCACATTG 0.458 NA 17 126 --- --- --- --- NA NA NA NA CNPY3 10695 broad.mit.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93e4eb9a-7643-411b-be90-94b801f23566 93f4434d-0de9-466f-a47f-6b774b51c44e g.chr6:42897358_42897360delTGC uc003ota.3 + 1 499_501 c.50_52delTGC c.(49-54)TTGCTG>TTG p.17_18LL>L CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_In_Frame_Del_p.17_18LL>L|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_5'UTR NM_006586 NP_006577 Q9BT09 CNPY3_HUMAN trinucleotide repeat containing 5 precursor 17_18 innate immune response endoplasmic reticulum ovary(1) 1 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CTTCTTCCCTtgctgctgctgct 0.606 NA 6 6 --- --- --- --- NA NA NA NA