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 ACTRT2 140625 broad.mit.edu 37 1 2939160 2939160 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:2939160G>A uc001ajz.2 + 1 1115 c.910G>A c.(910-912)GGC>AGC p.G304S NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 304 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) GCTGTCGGGGGGCACTACCCT 0.612 NA 24 53 0 0 0 0 CAMTA1 23261 broad.mit.edu 37 1 7798137 7798138 + Silent DNP GC GC AT TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:7798137_7798138GC>AT uc001aoi.2 + 16 3984_3985 c.3777_3778GC>AT c.(3775-3780)AAGCTG>AAATTG p.1259_1260KL>KL CAMTA1_uc010nzv.1_Silent_p.346_347KL>KL|CAMTA1_uc001aok.3_Silent_p.302_303KL>KL|CAMTA1_uc001aoj.2_Silent_p.215_216KL>KL NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1259_1260 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGCAGGAGAAGCTGCTTCCCAC 0.495 NA 9 41 0 0 0 0 PABPC4 8761 broad.mit.edu 37 1 40034520 40034520 + Missense_Mutation SNP T T A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:40034520T>A uc010oiv.1 - 6 1728 c.830A>T c.(829-831)AAA>ATA p.K277I PABPC4_uc001cdl.2_Missense_Mutation_p.K277I|PABPC4_uc001cdm.2_Missense_Mutation_p.K277I|SNORA55_uc001cdo.1_5'Flank NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 277 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding 0 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AAATTTCCGTTTTAACTCTGC 0.418 NA 28 64 0 0 0 0 CMPK1 51727 broad.mit.edu 37 1 47834266 47834266 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:47834266A>G uc001cri.2 + 2 446 c.297A>G c.(295-297)ATA>ATG p.I99M CMPK1_uc010omp.1_Intron|CMPK1_uc010omq.1_RNA NM_016308 NP_057392 P30085 KCY_HUMAN UMP-CMP kinase 1 isoform a 67 nucleobase, nucleoside and nucleotide interconversion cytosol|nucleus ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity ovary(1) 1 Gemcitabine(DB00441) CAGTTGAGATAACCATCAGTT 0.353 NA 8 24 0 0 0 0 C1orf83 127428 broad.mit.edu 37 1 54562121 54562121 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:54562121C>T uc001cwt.1 + 5 802 c.602C>T c.(601-603)ACG>ATG p.T201M C1orf83_uc001cwu.1_RNA NM_153035 NP_694580 Q96MN5 TEAN2_HUMAN hypothetical protein LOC127428 201 TFIIS central. transcription, DNA-dependent nucleus DNA binding 0 CCAGTCGGCACGTTTGTACAG 0.582 NA 7 53 0 0 0 0 FUBP1 8880 broad.mit.edu 37 1 78430374 78430374 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:78430374C>T uc001dii.2 - 10 883 c.794G>A c.(793-795)CGG>CAG p.R265Q FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.R286Q NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 265 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 ATACTCATTCCGAACTTCTCT 0.353 NA 17 57 0 0 0 0 OLFM3 118427 broad.mit.edu 37 1 102271700 102271700 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:102271700C>A uc001duf.2 - 5 762 c.691G>T c.(691-693)GTC>TTC p.V231F OLFM3_uc001dug.2_Missense_Mutation_p.V211F|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.V136F|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 231 Olfactomedin-like. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GATGTCTTGACTGTAACTGGG 0.428 NA 10 31 2.68e-12 3.16e-12 1 0 NBPF10 100132406 broad.mit.edu 37 1 145359169 145359169 + Missense_Mutation SNP T T A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:145359169T>A uc001end.3 + 74 9369 c.9334T>A c.(9334-9336)TTG>ATG p.L3112M NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3037 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCGTGTTGGCTTGGCTGTTGA 0.458 NA 8 781 0 0 0 0 RFX5 5993 broad.mit.edu 37 1 151316211 151316211 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:151316211G>T uc001exv.1 - 9 917 c.703C>A c.(703-705)CTC>ATC p.L235I RFX5_uc001exw.1_Missense_Mutation_p.L235I|RFX5_uc009wmr.1_Missense_Mutation_p.L235I|RFX5_uc010pcx.1_Missense_Mutation_p.L195I NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 235 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCAGAGATGAGATGCTGCTGT 0.582 NA 35 110 2.2e-25 2.72e-25 1 0 SLC27A3 11000 broad.mit.edu 37 1 153749041 153749041 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:153749041G>T uc001fcz.2 + 2 921 c.856G>T c.(856-858)GGG>TGG p.G286W SLC27A3_uc009won.2_RNA NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN solute carrier family 27 member 3 286 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding ovary(1) 1 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GAGAGCCATGGGGCTCCACCT 0.627 NA 4 152 1.24e-05 1.39e-05 1 0 CD5L 922 broad.mit.edu 37 1 157811469 157811469 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:157811469A>G uc001frk.3 - 1 166 c.23T>C c.(22-24)ATC>ACC p.I8T NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 8 apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTCACCAAGGATCAAGGAGAA 0.453 NA 5 25 0 0 0 0 COPA 1314 broad.mit.edu 37 1 160262334 160262334 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:160262334C>T uc009wti.2 - 28 3294 c.2900G>A c.(2899-2901)CGC>CAC p.R967H COPA_uc001fvv.3_Missense_Mutation_p.R976H NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 967 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATAGGTTGTGCGGCCTCGGGC 0.498 NA 4 124 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738821 176738821 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:176738821G>T uc001gkz.2 + 16 5566 c.4402G>T c.(4402-4404)GAC>TAC p.D1468Y PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1468 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CGGTGTTCCCGACCCGTCTTT 0.507 NA 16 102 0.000308642 0.000338835 1 0 ASPM 259266 broad.mit.edu 37 1 197072273 197072273 + Silent SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:197072273C>A uc001gtu.2 - 18 6365 c.6108G>T c.(6106-6108)GTG>GTT p.V2036V ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2036 IQ 14. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTCTTTTTCTCACTTTCATAC 0.338 NA 54 59 6.15e-18 7.42e-18 1 0 ATP2B4 493 broad.mit.edu 37 1 203682333 203682333 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:203682333G>C uc001gzw.2 + 14 3136 c.2252G>C c.(2251-2253)CGG>CCG p.R751P ATP2B4_uc001gzv.2_Missense_Mutation_p.R751P|ATP2B4_uc009xaq.2_Missense_Mutation_p.R751P NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 751 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCTAAGCTTCGGGTCCTGGCG 0.537 NA 26 110 0 0 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213436154 213436154 + Nonsense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:213436154C>T uc010ptr.1 + 14 3244 c.3085C>T c.(3085-3087)CAA>TAA p.Q1029* RPS6KC1_uc001hkd.2_Nonsense_Mutation_p.Q1017*|RPS6KC1_uc010pts.1_Nonsense_Mutation_p.Q817*|RPS6KC1_uc010ptt.1_Nonsense_Mutation_p.Q817*|RPS6KC1_uc010ptu.1_Nonsense_Mutation_p.Q848*|RPS6KC1_uc010ptv.1_Nonsense_Mutation_p.Q564*|RPS6KC1_uc001hke.2_Nonsense_Mutation_p.Q848* NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1029 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) CTCACTCATTCAACAGGTAAT 0.418 NA 9 48 0 0 0 0 LYST 1130 broad.mit.edu 37 1 235952058 235952058 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:235952058G>T uc001hxj.2 - 13 4806 c.4631C>A c.(4630-4632)TCC>TAC p.S1544Y LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1544 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CAACGCTTTGGATCCCAGTGA 0.403 NA Chediak-Higashi_syndrome 9 29 1.13e-05 1.28e-05 1 0 OR2M2 391194 broad.mit.edu 37 1 248344299 248344299 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:248344299A>G uc010pzf.1 + 1 1012 c.1012A>G c.(1012-1014)AAA>GAA p.K338E NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 338 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTATGATGTCAAAATACTAGC 0.289 NA 23 114 0 0 0 0 PCGF5 84333 broad.mit.edu 37 10 93038049 93038049 + Nonsense_Mutation SNP T T G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr10:93038049T>G uc001khh.2 + 10 994 c.747T>G c.(745-747)TAT>TAG p.Y249* PCGF5_uc010qnk.1_Nonsense_Mutation_p.Y249*|PCGF5_uc001khi.2_Nonsense_Mutation_p.Y249* NM_032373 NP_115749 Q86SE9 PCGF5_HUMAN polycomb group ring finger 5 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|PcG protein complex zinc ion binding lung(1) 1 TACTGCAGTATCGACCAAGAA 0.358 NA 4 24 0 0 0 0 IDE 3416 broad.mit.edu 37 10 94294475 94294475 + Silent SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr10:94294475T>C uc001kia.2 - 3 427 c.351A>G c.(349-351)GGA>GGG p.G117G NM_004969 NP_004960 P14735 IDE_HUMAN insulin-degrading enzyme isoform 1 precursor 117 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTTCTTTGTTCCCAAAAAAA 0.348 NA 28 36 0 0 0 0 CALHM1 255022 broad.mit.edu 37 10 105218230 105218230 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr10:105218230G>A uc001kxe.2 - 1 419 c.279C>T c.(277-279)CCC>CCT p.P93P NM_001001412 NP_001001412 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 93 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding ovary(1) 1 GCAACACAGCGGGGTCCTTGG 0.642 NA 17 26 0 0 0 0 VENTX 27287 broad.mit.edu 37 10 135053283 135053283 + Nonsense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr10:135053283C>G uc010quy.1 + 2 356 c.345C>G c.(343-345)TAC>TAG p.Y115* NM_014468 NP_055283 O95231 VENTX_HUMAN VENT homeobox 115 Homeobox. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) ACCACCAGTACCTGAGCCCTC 0.502 NA 27 33 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62296954 62296954 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr11:62296954C>A uc001ntl.2 - 5 5235 c.4935G>T c.(4933-4935)GAG>GAT p.E1645D AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1645 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGAAATGCATCTCAGGCATCT 0.468 NA 71 224 8.73e-25 1.07e-24 1 0 RTN3 10313 broad.mit.edu 37 11 63488185 63488185 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr11:63488185C>A uc001nxq.2 + 3 2398 c.2211C>A c.(2209-2211)GAC>GAA p.D737E RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.D718E|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.D625E|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 737 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 CATCTCTTGACTTAGAACAAG 0.423 NA 17 26 5.39e-06 6.14e-06 1 0 PTPN6 5777 broad.mit.edu 37 12 7065324 7065324 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr12:7065324C>T uc001qsb.2 + 8 1106 c.864C>T c.(862-864)ATC>ATT p.I288I PTPN6_uc001qsa.1_Silent_p.I290I|PTPN6_uc010sfr.1_Silent_p.I249I|PTPN6_uc009zfl.1_Silent_p.I288I|PTPN6_uc010sfs.1_Silent_p.I276I NM_002831 NP_002822 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 288 Tyrosine-protein phosphatase. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1) 1 GCCGAGTGATCCTGCAGGGAC 0.612 NA 14 34 0 0 0 0 USP15 9958 broad.mit.edu 37 12 62715344 62715344 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr12:62715344A>G uc001src.1 + 5 584 c.575A>G c.(574-576)AAT>AGT p.N192S USP15_uc001srb.1_Missense_Mutation_p.N192S|USP15_uc001sra.2_Missense_Mutation_p.N192S NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 192 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GAACCACTGAATAAACCAGAC 0.338 NA 8 19 0 0 0 0 E2F7 144455 broad.mit.edu 37 12 77439832 77439832 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr12:77439832G>T uc001sym.3 - 5 1051 c.815C>A c.(814-816)CCC>CAC p.P272H E2F7_uc001syn.2_Missense_Mutation_p.P272H NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 272 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 GGGACAGTCGGGTTCAGAGAA 0.433 NA 12 34 0.000978159 0.00105474 1 0 SACS 26278 broad.mit.edu 37 13 23942586 23942586 + Silent SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr13:23942586G>C uc001uon.2 - 5 889 c.300C>G c.(298-300)CTC>CTG p.L100L SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 100 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAATGTCCTTGAGAAAATCAA 0.373 NA 5 13 0 0 0 0 KLHL1 57626 broad.mit.edu 37 13 70549922 70549922 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr13:70549922G>A uc001vip.2 - 2 1304 c.510C>T c.(508-510)ACC>ACT p.T170T KLHL1_uc010thm.1_Intron NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 170 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TTGAATGGCCGGTTGATGACA 0.318 NA 3 30 0 0 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724915 38724915 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr14:38724915G>A uc001wum.1 - 1 660 c.313C>T c.(313-315)CTG>TTG p.L105L NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 105 Extracellular (Potential).|C-type lectin. integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) TCGTTCTCCAGGGTGCAGTGG 0.692 NA 3 8 0 0 0 0 FLRT2 23768 broad.mit.edu 37 14 86088851 86088851 + Silent SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr14:86088851T>C uc001xvr.2 + 2 1760 c.993T>C c.(991-993)TCT>TCC p.S331S FLRT2_uc010atd.2_Silent_p.S331S NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 331 Extracellular (Potential).|LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) TCCCTTCATCTCTCAACGTGC 0.488 NA 38 216 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43821107 43821107 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr15:43821107G>A uc001zrt.2 + 4 7903 c.7436G>A c.(7435-7437)CGG>CAG p.R2479Q NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2479 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGAGGGGGGCGGCGCCGGGTA 0.622 NA 17 33 0 0 0 0 SGK269 79834 broad.mit.edu 37 15 77474216 77474216 + Missense_Mutation SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr15:77474216T>C uc002bcm.2 - 3 361 c.53A>G c.(52-54)AAG>AGG p.K18R SGK269_uc002bcn.2_Missense_Mutation_p.K18R NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 18 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) AAAGCAATTCTTGCATTCACC 0.408 NA 23 43 0 0 0 0 ANKS3 124401 broad.mit.edu 37 16 4774826 4774826 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr16:4774826C>T uc002cxj.1 - 6 793 c.498G>A c.(496-498)CCG>CCA p.P166P ANKS3_uc002cxi.1_Silent_p.P93P|ANKS3_uc002cxk.2_Silent_p.P37P|ANKS3_uc002cxl.2_5'UTR|ANKS3_uc010uxs.1_Silent_p.P93P|ANKS3_uc002cxm.2_Intron NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain 166 0 ATCCACATATCGGCTCCCTGC 0.488 NA 6 16 0 0 0 0 C16orf71 146562 broad.mit.edu 37 16 4793097 4793097 + Missense_Mutation SNP A A C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr16:4793097A>C uc002cxn.2 + 5 1299 c.837A>C c.(835-837)GAA>GAC p.E279D NM_139170 NP_631909 Q8IYS4 CP071_HUMAN hypothetical protein LOC146562 279 central_nervous_system(1) 1 CGGGACAAGAAGACAACCAGG 0.527 NA 28 52 0 0 0 0 NFATC2IP 84901 broad.mit.edu 37 16 28975123 28975123 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr16:28975123G>T uc002dru.2 + 8 1214 c.1199G>T c.(1198-1200)GGC>GTC p.G400V uc010vct.1_Intron|NFATC2IP_uc002drt.2_Missense_Mutation_p.G121V|NFATC2IP_uc002drv.2_Missense_Mutation_p.G119V|NFATC2IP_uc010vdh.1_Missense_Mutation_p.G108V NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, 400 Ubiquitin-like. cytoplasm|nucleus ovary(1) 1 AAGCTTTCAGGCAGGGAGCTG 0.587 NA 9 29 0.000442599 0.000484143 1 0 CDH11 1009 broad.mit.edu 37 16 64984856 64984856 + Silent SNP G G A rs142957030 TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr16:64984856G>A uc002eoi.2 - 12 2142 c.1708C>T c.(1708-1710)CTG>TTG p.L570L CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.L570L|CDH11_uc010vin.1_Silent_p.L444L NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 570 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) ACTATGGGCAGAAGGTACAAG 0.612 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 15 33 0 0 0 0 RANBP10 57610 broad.mit.edu 37 16 67761784 67761784 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr16:67761784C>T uc002eud.2 - 12 1606 c.1490G>A c.(1489-1491)CGG>CAG p.R497Q RANBP10_uc010ceo.2_Missense_Mutation_p.R268Q|RANBP10_uc010vju.1_Missense_Mutation_p.R471Q|RANBP10_uc010vjv.1_Missense_Mutation_p.R410Q|RANBP10_uc010vjw.1_Missense_Mutation_p.R188Q NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 497 ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) GAGCTGCCGCCGAGGATGCCT 0.622 NA 12 29 0 0 0 0 RAI1 10743 broad.mit.edu 37 17 17697704 17697704 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr17:17697704G>T uc002grm.2 + 3 1911 c.1442G>T c.(1441-1443)TGC>TTC p.C481F RAI1_uc002grn.1_Missense_Mutation_p.C481F NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 481 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) AGCCAGCACTGCAGCCCCGAA 0.652 NA 19 66 4.63e-17 5.55e-17 1 0 CDC6 990 broad.mit.edu 37 17 38450241 38450241 + Silent SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr17:38450241A>G uc002huj.1 + 6 1086 c.876A>G c.(874-876)AAA>AAG p.K292K NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 292 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 TGGACAGCAAAGGCCAGGATG 0.393 NA 24 79 0 0 0 0 DSEL 92126 broad.mit.edu 37 18 65180850 65180850 + Silent SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr18:65180850G>T uc002lke.1 - 2 2250 c.1026C>A c.(1024-1026)TCC>TCA p.S342S NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 332 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) AATTATAATTGGAATCTGCTA 0.363 NA 13 56 4.38e-07 5.05e-07 1 0 KEAP1 9817 broad.mit.edu 37 19 10597411 10597411 + Missense_Mutation SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:10597411T>C uc002moq.1 - 6 1948 c.1792A>G c.(1792-1794)ACA>GCA p.T598A KEAP1_uc002mop.1_Missense_Mutation_p.T257A|KEAP1_uc002mor.1_Missense_Mutation_p.T598A NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 598 Kelch 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGGCCCGATGTCATTCGGGTC 0.567 NA 47 44 0 0 0 0 ZNF709 163051 broad.mit.edu 37 19 12575387 12575387 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:12575387C>A uc002mtv.3 - 4 1510 c.1349G>T c.(1348-1350)TGT>TTT p.C450F ZNF709_uc002mtw.3_Missense_Mutation_p.C418F|ZNF709_uc002mtx.3_Missense_Mutation_p.C450F NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a 450 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACACTGTTTACATTCATAGGG 0.403 NA 27 82 4.88e-14 5.8e-14 1 0 ZNF302 55900 broad.mit.edu 37 19 35175566 35175566 + Silent SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:35175566A>G uc002nvr.1 + 6 1019 c.756A>G c.(754-756)AAA>AAG p.K252K ZNF302_uc002nvp.1_Silent_p.K208K|ZNF302_uc002nvq.1_Silent_p.K208K|ZNF302_uc002nvs.1_Silent_p.K208K NM_018443 NP_060913 Q9NR11 ZN302_HUMAN zinc finger protein 302 287 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AATGTGGGAAAGCCTTTGGCA 0.438 NA 54 60 0 0 0 0 AXL 558 broad.mit.edu 37 19 41749592 41749592 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:41749592G>A uc010ehj.2 + 12 1707 c.1517G>A c.(1516-1518)CGT>CAT p.R506H CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.R506H|AXL_uc010ehk.2_Missense_Mutation_p.R497H NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 506 Cytoplasmic (Potential). integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 TCCTACAGTCGTCGGACCACT 0.562 NA 38 72 0 0 0 0 SLC8A2 6543 broad.mit.edu 37 19 47941206 47941206 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:47941206G>A uc002pgx.2 - 7 2188 c.1910C>T c.(1909-1911)GCC>GTC p.A637V SLC8A2_uc010xyq.1_Missense_Mutation_p.A393V|SLC8A2_uc010xyr.1_Missense_Mutation_p.A100V|SLC8A2_uc010ele.2_Missense_Mutation_p.A637V NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 637 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CTCCTCCTCGGCTGTTAGCTT 0.567 NA 27 101 0 0 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50463939 50463939 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:50463939G>A uc010ybh.1 - 2 421 c.330C>T c.(328-330)GGC>GGT p.G110G SIGLEC11_uc010ybi.1_Silent_p.G110G NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 110 Ig-like V-type.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) AGCTCCCTTTGCCGGGATCCC 0.587 NA 11 87 0 0 0 0 BRSK1 84446 broad.mit.edu 37 19 55823324 55823324 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:55823324G>A uc002qkg.2 + 19 2502 c.2225G>A c.(2224-2226)CGA>CAA p.R742Q BRSK1_uc002qkf.2_Missense_Mutation_p.R758Q|BRSK1_uc002qkh.2_Missense_Mutation_p.R437Q NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 742 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GCCCCACCCCGAAGCCTGCAG 0.697 NA 5 17 0 0 0 0 LCLAT1 253558 broad.mit.edu 37 2 30863047 30863047 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:30863047G>C uc002rnj.2 + 7 1016 c.807G>C c.(805-807)GAG>GAC p.E269D LCLAT1_uc010ymp.1_Missense_Mutation_p.E107D|LCLAT1_uc002rnl.2_Missense_Mutation_p.E231D|LCLAT1_uc010ymq.1_Missense_Mutation_p.E231D NM_182551 NP_872357 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 isoform 1 269 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity ovary(2) 2 CTCAATCAGAGAAGCACCTCC 0.473 NA 51 63 0 0 0 0 CNNM4 26504 broad.mit.edu 37 2 97427416 97427416 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:97427416G>A uc002swx.2 + 1 778 c.680G>A c.(679-681)CGC>CAC p.R227H NM_020184 NP_064569 Q6P4Q7 CNNM4_HUMAN cyclin M4 227 DUF21. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|ovary(1) 3 AAGGAGAGGCGCTATGCCCGC 0.592 NA 4 69 0 0 0 0 VWA3B 200403 broad.mit.edu 37 2 98852910 98852910 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:98852910C>T uc002syo.2 + 18 2750 c.2486C>T c.(2485-2487)ACG>ATG p.T829M VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.T348M|VWA3B_uc002sym.2_Missense_Mutation_p.T829M|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.T486M|VWA3B_uc002syp.1_Missense_Mutation_p.T221M|VWA3B_uc002syq.1_Missense_Mutation_p.T105M|VWA3B_uc002syr.1_Missense_Mutation_p.T146M|VWA3B_uc010fih.1_5'Flank NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 829 ovary(3)|large_intestine(2)|skin(1) 6 GAAAAGGTGACGCGAGAAGGA 0.423 NA 22 45 0 0 0 0 INPP4A 3631 broad.mit.edu 37 2 99160454 99160454 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:99160454C>T uc002syy.2 + 11 1326 c.933C>T c.(931-933)GAC>GAT p.D311D INPP4A_uc010yvj.1_Silent_p.D311D|INPP4A_uc010yvk.1_Silent_p.D311D|INPP4A_uc002syx.2_Silent_p.D311D|INPP4A_uc010fik.2_Intron NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 311 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 ACCTGACCGACCTCCATCAGT 0.488 NA 3 5 0 0 0 0 POTEE 445582 broad.mit.edu 37 2 131976382 131976382 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:131976382G>A uc002tsn.2 + 1 459 c.407G>A c.(406-408)CGT>CAT p.R136H PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Translation_Start_Site|POTEE_uc002tsl.2_Translation_Start_Site NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 136 ATP binding 0 TACCACGTCCGTGGAGAAGAT 0.592 NA 29 78 0 0 0 0 KYNU 8942 broad.mit.edu 37 2 143712382 143712382 + Missense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:143712382C>G uc002tvl.2 + 5 507 c.377C>G c.(376-378)GCC>GGC p.A126G KYNU_uc002tvk.2_Missense_Mutation_p.A126G|KYNU_uc010fnm.2_Missense_Mutation_p.A126G NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 126 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TTTACAGGAGCCAATGAGAAA 0.299 NA 3 28 0 0 0 0 NFE2L2 4780 broad.mit.edu 37 2 178096545 178096545 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:178096545G>C uc002ulh.3 - 5 1341 c.786C>G c.(784-786)GAC>GAG p.D262E NFE2L2_uc002ulg.3_Missense_Mutation_p.D246E|NFE2L2_uc010zfa.1_Missense_Mutation_p.D239E|NFE2L2_uc002uli.3_Missense_Mutation_p.D246E NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 262 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTGGTTGGGGTCTTCTGTGG 0.403 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 10 41 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179471858 179471858 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:179471858A>G uc010zfg.1 - 227 45991 c.45767T>C c.(45766-45768)ATC>ACC p.I15256T uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I8951T|TTN_uc010zfi.1_Missense_Mutation_p.I8884T|TTN_uc010zfj.1_Missense_Mutation_p.I8759T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16183 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGACCTGTGATGTCACATTT 0.413 NA 24 130 0 0 0 0 ZNF142 7701 broad.mit.edu 37 2 219510940 219510940 + Nonsense_Mutation SNP T T A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:219510940T>A uc002vin.2 - 7 1841 c.1405A>T c.(1405-1407)AAG>TAG p.K469* ZNF142_uc002vil.2_Nonsense_Mutation_p.K430*|ZNF142_uc010fvt.2_Nonsense_Mutation_p.K306*|ZNF142_uc002vim.2_Nonsense_Mutation_p.K306* NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 469 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGGTAGTGCTTCCACTTGGTG 0.517 NA 43 56 0 0 0 0 COPS7B 64708 broad.mit.edu 37 2 232653363 232653363 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:232653363C>A uc002vsg.1 + 2 186 c.83C>A c.(82-84)ACT>AAT p.T28N COPS7B_uc010fxy.1_Intron|COPS7B_uc002vsh.1_Missense_Mutation_p.T28N|COPS7B_uc002vsi.1_Translation_Start_Site|COPS7B_uc002vsj.1_5'Flank NM_022730 NP_073567 Q9H9Q2 CSN7B_HUMAN COP9 constitutive photomorphogenic homolog 28 cullin deneddylation cytoplasm|signalosome ovary(1)|liver(1)|skin(1) 3 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025) Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) TCAGCCCTCACTGCTCTCATA 0.498 NA 29 41 8.58e-18 1.03e-17 1 0 SLC23A2 9962 broad.mit.edu 37 20 4880210 4880210 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr20:4880210A>G uc002wlg.1 - 6 848 c.473T>C c.(472-474)TTT>TCT p.F158S SLC23A2_uc010zqr.1_Missense_Mutation_p.F157S|SLC23A2_uc002wlh.1_Missense_Mutation_p.F158S|SLC23A2_uc002wli.2_Missense_Mutation_p.F157S NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 158 Helical; (Potential). L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 CCTGCATCCAAACGTTGTCTG 0.552 NA 71 176 0 0 0 0 XRN2 22803 broad.mit.edu 37 20 21312236 21312236 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr20:21312236A>G uc002wsf.1 + 7 709 c.614A>G c.(613-615)GAA>GGA p.E205G XRN2_uc002wsg.1_Missense_Mutation_p.E129G|XRN2_uc010zsk.1_Missense_Mutation_p.E151G NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 205 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 GGTGAAGGAGAACATAAAATC 0.289 NA 16 36 0 0 0 0 MRPL39 54148 broad.mit.edu 37 21 26978860 26978860 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr21:26978860G>C uc002ylo.2 - 2 195 c.181C>G c.(181-183)CGA>GGA p.R61G MRPL39_uc002yln.2_Missense_Mutation_p.R61G NM_017446 NP_059142 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 isoform a 61 mitochondrial ribosome nucleotide binding 0 TTCTCAGTTCGGGGAGTTAAT 0.433 NA 10 40 0 0 0 0 APP 351 broad.mit.edu 37 21 27394285 27394285 + Missense_Mutation SNP C C T rs147485129 TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr21:27394285C>T uc002ylz.2 - 6 936 c.736G>A c.(736-738)GAG>AAG p.E246K APP_uc010glk.2_Missense_Mutation_p.E241K|APP_uc002yma.2_Missense_Mutation_p.E246K|APP_uc011ach.1_Missense_Mutation_p.E190K|APP_uc002ymb.2_Missense_Mutation_p.E246K|APP_uc010glj.2_Missense_Mutation_p.E190K|APP_uc011aci.1_Missense_Mutation_p.E211K|APP_uc011acj.1_Missense_Mutation_p.E246K NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 246 Extracellular (Potential).|Asp/Glu-rich (acidic). adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) tcatcgtcctcgtcatcatcg 0.114 NA 9 35 0 0 0 0 NEFH 4744 broad.mit.edu 37 22 29879403 29879403 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr22:29879403C>T uc003afo.2 + 2 994 c.923C>T c.(922-924)ACA>ATA p.T308I NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 308 Coil 2B.|Rod. cell death|nervous system development neurofilament 0 AAGGTGAACACAGACGCTATG 0.597 NA 56 271 0 0 0 0 SSTR3 6753 broad.mit.edu 37 22 37603361 37603361 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr22:37603361C>T uc003ara.2 - 2 544 c.482G>A c.(481-483)CGC>CAC p.R161H SSTR3_uc003arb.2_Missense_Mutation_p.R161H NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 161 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 GCTGACCGTGCGGGCCACCGG 0.682 NA 53 59 0 0 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39387518 39387518 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr22:39387518A>G uc003awo.1 + 6 959 c.905A>G c.(904-906)CAC>CGC p.H302R APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.H277R|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron NM_004900 NP_004891 Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 302 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding ovary(1) 1 Melanoma(58;0.04) GAGAACACACACGTGAGACTG 0.597 NA 14 212 0 0 0 0 FANCD2 2177 broad.mit.edu 37 3 10122836 10122836 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:10122836A>G uc003buw.2 + 31 3107 c.3029A>G c.(3028-3030)CAA>CGA p.Q1010R FANCD2_uc003bux.1_Missense_Mutation_p.Q1010R|FANCD2_uc003buy.1_Missense_Mutation_p.Q1010R|FANCD2_uc010hcw.1_RNA NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 1010 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) AGATCTGCCCAAGAAATTGTT 0.408 NA D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 18 46 0 0 0 0 CAND2 23066 broad.mit.edu 37 3 12858258 12858258 + Missense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:12858258C>G uc003bxk.2 + 10 1876 c.1827C>G c.(1825-1827)GAC>GAG p.D609E CAND2_uc003bxj.2_Missense_Mutation_p.D516E NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 609 HEAT 13. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 TTGGGGATGACCTGGAGCCCA 0.647 NA 23 149 0 0 0 0 SLC4A7 9497 broad.mit.edu 37 3 27477926 27477926 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:27477926C>A uc003cdv.2 - 5 586 c.515G>T c.(514-516)GGA>GTA p.G172V SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.G177V|SLC4A7_uc011aww.1_Missense_Mutation_p.G181V|SLC4A7_uc011awx.1_Missense_Mutation_p.G181V|SLC4A7_uc011awy.1_Missense_Mutation_p.G177V|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.G177V|SLC4A7_uc011axb.1_Missense_Mutation_p.G181V|SLC4A7_uc010hfm.2_Missense_Mutation_p.G177V|SLC4A7_uc003cdw.2_Missense_Mutation_p.G172V NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 172 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 CATGACTGTTCCATTGAGGAT 0.393 NA 11 30 4.69e-08 5.44e-08 1 0 SETD2 29072 broad.mit.edu 37 3 47162207 47162207 + Missense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:47162207C>G uc003cqs.2 - 3 3972 c.3919G>C c.(3919-3921)GAT>CAT p.D1307H SETD2_uc003cqv.2_Missense_Mutation_p.D1296H NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1307 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GATCTTGGATCCCAGTAACCA 0.473 NA N|F|S|Mis clear cell renal carcinoma 10 31 0 0 0 0 SLC12A8 84561 broad.mit.edu 37 3 124906105 124906105 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:124906105G>A uc003ehv.3 - 4 477 c.366C>T c.(364-366)ATC>ATT p.I122I SLC12A8_uc003ehw.3_Silent_p.I151I|SLC12A8_uc010hrz.1_5'UTR NM_024628 NP_078904 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 122 potassium ion transport integral to membrane symporter activity 0 AGAGCAGCCCGATGGTGCCTC 0.627 NA 14 72 0 0 0 0 PLD1 5337 broad.mit.edu 37 3 171394572 171394572 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:171394572G>A uc003fhs.2 - 18 2164 c.2048C>T c.(2047-2049)TCT>TTT p.S683F PLD1_uc003fht.2_Missense_Mutation_p.S645F|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_Missense_Mutation_p.S8F NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 683 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GTGGACTGCAGAGGCAATGTC 0.532 NA 8 81 0 0 0 0 TBCK 93627 broad.mit.edu 37 4 107016738 107016738 + Silent SNP T T G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr4:107016738T>G uc010ilv.2 - 25 2837 c.2472A>C c.(2470-2472)GCA>GCC p.A824A TBCK_uc003hyb.2_Silent_p.A567A|TBCK_uc003hye.2_Silent_p.A785A|TBCK_uc003hyc.2_Silent_p.A761A|TBCK_uc003hyd.2_Silent_p.A652A|TBCK_uc003hyf.2_Silent_p.A824A NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 824 Rhodanese. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 GCTCCCCTTCTGCAGTGAAGG 0.468 NA 11 45 0 0 0 0 KIAA0922 23240 broad.mit.edu 37 4 154525199 154525199 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr4:154525199G>A uc003inm.3 + 25 3084 c.3032G>A c.(3031-3033)AGC>AAC p.S1011N KIAA0922_uc010ipp.2_Missense_Mutation_p.S1012N|KIAA0922_uc010ipq.2_Missense_Mutation_p.S780N NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1011 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CCCCTGGGCAGCTCACTGCCT 0.502 NA 13 67 0 0 0 0 ADAM29 11086 broad.mit.edu 37 4 175898746 175898746 + Missense_Mutation SNP A A T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr4:175898746A>T uc003iuc.2 + 5 2740 c.2070A>T c.(2068-2070)TTA>TTT p.L690F ADAM29_uc003iud.2_Missense_Mutation_p.L690F|ADAM29_uc010irr.2_Missense_Mutation_p.L690F|ADAM29_uc011cki.1_Missense_Mutation_p.L690F NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 690 Helical; (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGTTTATTTTATTATGTTGTC 0.343 NA 9 19 0 0 0 0 TTC37 9652 broad.mit.edu 37 5 94820469 94820469 + Missense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr5:94820469C>G uc003klb.2 - 38 4282 c.4012G>C c.(4012-4014)GAC>CAC p.D1338H NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1338 TPR 19. binding ovary(3)|pancreas(1) 4 CTTCCTGTGTCTATTAGACCA 0.348 NA 18 25 0 0 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256690 140256690 + Missense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr5:140256690C>G uc003lic.2 + 1 1760 c.1633C>G c.(1633-1635)CTG>GTG p.L545V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.L545V NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 545 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGCCGCCTCTGGGCAGCAA 0.697 NA 36 79 0 0 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788292 140788292 + Missense_Mutation SNP A A C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr5:140788292A>C uc003lkj.1 + 1 523 c.523A>C c.(523-525)AAT>CAT p.N175H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.N175H NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 175 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATAAACTCTAATCCTTATTT 0.388 NA 10 7 0 0 0 0 FAM71B 153745 broad.mit.edu 37 5 156590665 156590666 + Missense_Mutation DNP GC GC AA TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr5:156590665_156590666GC>AA uc003lwn.2 - 2 710_711 c.610_611GC>TT c.(610-612)GCA>TTA p.A204L NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 204 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGAGCTCTGCAGCCTATACC 0.49 NA 18 53 0 0 0 0 PECI 10455 broad.mit.edu 37 6 4135788 4135788 + Missense_Mutation SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:4135788T>C uc003mwf.2 - 1 44 c.7A>G c.(7-9)ATG>GTG p.M3V PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_5'UTR|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_5'Flank|uc003mwg.1_5'Flank NM_206836 NP_996667 O75521 ECI2_HUMAN peroxisomal D3,D2-enoyl-CoA isomerase isoform 2 3 fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding 0 Ovarian(93;0.0925) all_hematologic(90;0.0895) AAGTACGCCATCGCCATCCCT 0.652 NA 19 59 0 0 0 0 SCAND3 114821 broad.mit.edu 37 6 28540656 28540656 + Nonsense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:28540656C>A uc003nlo.2 - 4 3628 c.3010G>T c.(3010-3012)GAA>TAA p.E1004* NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1004 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 gcaagactttctcgatgaatg 0 NA 16 34 3.52e-12 4.13e-12 1 0 OR2H1 26716 broad.mit.edu 37 6 29429639 29429639 + Silent SNP T T A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:29429639T>A uc003nmi.2 + 3 536 c.93T>A c.(91-93)ACT>ACA p.T31T OR2H1_uc003nmj.1_Silent_p.T31T|OR2H1_uc010jri.1_Intron NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTGTCTTCACTTCCTACCTCT 0.522 NA 4 166 0 0 0 0 ZFP57 346171 broad.mit.edu 37 6 29641487 29641487 + Missense_Mutation SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:29641487T>C uc011dlw.1 - 4 552 c.401A>G c.(400-402)GAG>GGG p.E134G ZFP57_uc003nnl.3_Missense_Mutation_p.E114G NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 ACTAGTCCCCTCATCTCTCAG 0.512 NA 3 142 0 0 0 0 HLA-F 3134 broad.mit.edu 37 6 29692932 29692932 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:29692932G>C uc010jrl.2 + 4 859 c.735G>C c.(733-735)CAG>CAC p.Q245H HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Missense_Mutation_p.Q245H|HLA-F_uc011dlx.1_Missense_Mutation_p.Q245H|HLA-F_uc011dly.1_RNA NM_018950 NP_061823 P30511 HLAF_HUMAN major histocompatibility complex, class I, F 245 Alpha-3.|Extracellular (Potential).|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity 0 GGGAGGAACAGACCCAGGACA 0.627 NA 14 44 0 0 0 0 HLA-DMB 3109 broad.mit.edu 37 6 32906490 32906490 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:32906490G>A uc003ocl.1 - 2 541 c.308C>T c.(307-309)CCC>CTC p.P103L HLA-DMB_uc003ocj.1_Missense_Mutation_p.P103L|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Missense_Mutation_p.P103L NM_002118 NP_002109 P28068 DMB_HUMAN major histocompatibility complex, class II, DM 103 Beta-1.|Lumenal (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 TCCCCAGAAGGGCTGGGTGTG 0.572 NA 25 77 0 0 0 0 PEX6 5190 broad.mit.edu 37 6 42934376 42934376 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:42934376C>T uc003otf.2 - 10 2074 c.1981G>A c.(1981-1983)GAG>AAG p.E661K PEX6_uc010jya.2_RNA NM_000287 NP_000278 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 661 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1) 1 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) TCATCCTCCTCAGTCAAGCCA 0.597 NA 32 128 0 0 0 0 PAQR8 85315 broad.mit.edu 37 6 52268767 52268767 + Silent SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:52268767C>A uc003pao.3 + 2 930 c.756C>A c.(754-756)ATC>ATA p.I252I NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 252 Helical; Name=5; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) CCCTCCAGATCCTCTTCTTCC 0.577 NA 17 50 2.23e-06 2.55e-06 1 0 GCM1 8521 broad.mit.edu 37 6 52993147 52993147 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:52993147G>A uc003pbp.2 - 6 1377 c.1168C>T c.(1168-1170)CTC>TTC p.L390F NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 390 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) TAGGTGAAGAGAAAGGGGTCT 0.443 NA 13 269 0 0 0 0 FBXL4 26235 broad.mit.edu 37 6 99374830 99374830 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:99374830G>C uc003ppf.1 - 3 393 c.35C>G c.(34-36)ACC>AGC p.T12S FBXL4_uc003ppg.1_Missense_Mutation_p.T12S|FBXL4_uc003pph.1_5'UTR NM_012160 NP_036292 Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 12 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex skin(2) 2 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) ATAAAACATGGTCAGAACTGT 0.433 NA 15 75 0 0 0 0 SIM1 6492 broad.mit.edu 37 6 100898154 100898154 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:100898154C>T uc003pqj.3 - 3 544 c.337G>A c.(337-339)GGT>AGT p.G113S SIM1_uc010kcu.2_Missense_Mutation_p.G113S NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 113 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) TGAGAAAGACCCAAGTGGACT 0.562 NA 32 107 0 0 0 0 LRP11 84918 broad.mit.edu 37 6 150174158 150174158 + Missense_Mutation SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:150174158T>C uc003qng.2 - 2 1076 c.752A>G c.(751-753)GAC>GGC p.D251G LRP11_uc003qnh.1_Missense_Mutation_p.D251G NM_032832 NP_116221 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 251 PKD.|Extracellular (Potential). integral to membrane receptor activity 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) CACTGACGGGTCCCCCTGCAG 0.542 NA 4 54 0 0 0 0 SDK1 221935 broad.mit.edu 37 7 4249658 4249658 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:4249658C>T uc003smx.2 + 38 5542 c.5403C>T c.(5401-5403)GCC>GCT p.A1801A SDK1_uc010kso.2_Silent_p.A1057A|SDK1_uc003smy.2_Silent_p.A288A NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1801 cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TTCTCCCAGCCCCTGGGGCCC 0.522 NA 4 118 0 0 0 0 EGFR 1956 broad.mit.edu 37 7 55210023 55210023 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:55210023G>C uc003tqk.2 + 2 379 c.133G>C c.(133-135)GAA>CAA p.E45Q EGFR_uc003tqh.2_Missense_Mutation_p.E45Q|EGFR_uc003tqi.2_Missense_Mutation_p.E45Q|EGFR_uc003tqj.2_Missense_Mutation_p.E45Q|EGFR_uc010kzg.1_Missense_Mutation_p.E45Q|EGFR_uc011kco.1_5'UTR NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 45 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGGCACTTTTGAAGATCATTT 0.398 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 5 350 0 0 0 0 STEAP4 79689 broad.mit.edu 37 7 87910314 87910314 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:87910314C>T uc003ujs.2 - 4 1170 c.1065G>A c.(1063-1065)GGG>GGA p.G355G STEAP4_uc010lek.2_Silent_p.G179G NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 355 Ferric oxidoreductase.|Helical; (Potential). 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) ACAGAAAAAACCCAAGTATTC 0.408 NA 19 34 0 0 0 0 TRRAP 8295 broad.mit.edu 37 7 98608797 98608797 + Silent SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:98608797C>A uc003upp.2 + 70 11228 c.11019C>A c.(11017-11019)ACC>ACA p.T3673T TRRAP_uc011kis.1_Silent_p.T3644T|TRRAP_uc003upr.2_Silent_p.T3379T|TRRAP_uc003ups.2_5'Flank NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3673 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGATGTTCACCATCCAGCTGG 0.537 NA 20 73 1.97e-08 2.29e-08 1 0 FBXO24 26261 broad.mit.edu 37 7 100198322 100198322 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:100198322A>G uc003uvm.1 + 10 1836 c.1543A>G c.(1543-1545)ATG>GTG p.M515V FBXO24_uc003uvn.1_Missense_Mutation_p.M153V|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.M553V|FBXO24_uc011kka.1_Missense_Mutation_p.M503V|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank NM_033506 NP_277041 O75426 FBX24_HUMAN F-box only protein 24 isoform 1 515 ubiquitin ligase complex ubiquitin-protein ligase activity ovary(3)|skin(1) 4 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCCCGGGGGGATGGCCCAGGC 0.662 NA 3 50 0 0 0 0 SLC35B4 84912 broad.mit.edu 37 7 133979789 133979789 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:133979789G>A uc003vrn.2 - 10 1116 c.792C>T c.(790-792)TGC>TGT p.C264C SLC35B4_uc010lmk.2_Silent_p.C128C|SLC35B4_uc010lml.1_Intron NM_032826 NP_116215 Q969S0 S35B4_HUMAN solute carrier family 35, member B4 264 Helical; (Potential). Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity skin(1) 1 TGAGGGAGGCGCATTCTGTGG 0.537 NA 7 377 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 3432474 3432474 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr8:3432474G>A uc011kwk.1 - 10 1730 c.1340C>T c.(1339-1341)CCG>CTG p.P447L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 447 CUB 3.|Extracellular (Potential). 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) TACCTTGTCCGGGTCGGTGGT 0.522 NA 16 31 0 0 0 0 ADHFE1 137872 broad.mit.edu 37 8 67372555 67372555 + Missense_Mutation SNP G G A rs144952353 TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr8:67372555G>A uc003xwb.3 + 13 1209 c.1175G>A c.(1174-1176)CGC>CAC p.R392H ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.R344H|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.R322H NM_144650 NP_653251 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 392 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GCCGACACCCGCACTGCCAGG 0.517 NA OREG0018808 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 155 0 0 0 0 EXT1 2131 broad.mit.edu 37 8 118847731 118847731 + Silent SNP A A T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr8:118847731A>T uc003yok.1 - 3 1889 c.1116T>A c.(1114-1116)ATT>ATA p.I372I NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 372 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GGTTCCAATTAATCACTTCAG 0.507 NA Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome 4 94 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974678 21974678 + Missense_Mutation SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr9:21974678T>C uc003zpk.2 - 1 361 c.149A>G c.(148-150)CAG>CGG p.Q50R MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.Q50R|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 50 ANK 2. Q -> R (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(25)|p.Q50*(5)|p.Q50R(1)|p.V28_V51del(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCTACCCACCTGGATCGGCCT 0.682 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 94 81 0 0 0 0 GCNT1 2650 broad.mit.edu 37 9 79117750 79117750 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr9:79117750C>T uc010mpf.2 + 3 794 c.453C>T c.(451-453)TGC>TGT p.C151C GCNT1_uc010mpg.2_Silent_p.C151C|GCNT1_uc010mph.2_Silent_p.C151C|GCNT1_uc004akf.3_Silent_p.C151C|GCNT1_uc010mpi.2_Silent_p.C151C|GCNT1_uc004akh.3_Silent_p.C151C NM_001490 NP_001481 Q02742 GCNT1_HUMAN beta-1,3-galactosyl-O-glycosyl-glycoprotein 151 Lumenal (Potential).|Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity 0 ATTTCTATTGCATTCATGTGG 0.443 NA 22 35 0 0 0 0 NOL8 55035 broad.mit.edu 37 9 95064013 95064013 + Missense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr9:95064013C>G uc004arv.2 - 13 3332 c.2995G>C c.(2995-2997)GAA>CAA p.E999Q NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.E231Q|NOL8_uc011ltw.1_Missense_Mutation_p.E931Q NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 999 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 TGGAATATTTCTTTCAGATCC 0.388 NA 5 11 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31854842 31854842 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chrX:31854842G>T uc004dda.1 - 49 7437 c.7193C>A c.(7192-7194)CCA>CAA p.P2398Q DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.P1054Q|DMD_uc004dcx.2_Missense_Mutation_p.P1057Q|DMD_uc004dcz.2_Missense_Mutation_p.P2275Q|DMD_uc004dcy.1_Missense_Mutation_p.P2394Q|DMD_uc004ddb.1_Missense_Mutation_p.P2390Q|DMD_uc004ddd.1_5'UTR NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2398 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TACCTTCACTGGCTGAGTGGC 0.423 NA 23 16 1.37e-18 1.66e-18 1 0 CSTF2 1478 broad.mit.edu 37 X 100078983 100078983 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chrX:100078983G>A uc004egh.2 + 5 611 c.553G>A c.(553-555)GAA>AAA p.E185K CSTF2_uc010nnd.2_Missense_Mutation_p.E185K|CSTF2_uc004egi.2_Missense_Mutation_p.E185K NM_001325 NP_001316 P33240 CSTF2_HUMAN cleavage stimulation factor subunit 2 185 Interactions with CSTF3 and SYMPK. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|protein binding|RNA binding skin(1) 1 TGTGGATCCGGAAATTGCCCT 0.468 NA 23 45 0 0 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685719 125685719 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chrX:125685719G>A uc004eul.2 - 1 1124 c.873C>T c.(871-873)GCC>GCT p.A291A NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 291 WD 3. skin(3)|ovary(1) 4 GTGCGCTCCCGGCTTTCCACA 0.607 NA 15 30 0 0 0 0 ZNF185 7739 broad.mit.edu 37 X 152113985 152113985 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chrX:152113985C>T uc010ntv.1 + 16 1420 c.1383C>T c.(1381-1383)GTC>GTT p.V461V ZNF185_uc011myg.1_Silent_p.V493V|ZNF185_uc011myh.1_Silent_p.V464V|ZNF185_uc011myi.1_Silent_p.V432V|ZNF185_uc011myj.1_Silent_p.V402V|ZNF185_uc011myk.1_Silent_p.V462V|ZNF185_uc004fgw.3_Silent_p.V240V|ZNF185_uc004fgu.2_Silent_p.V90V|ZNF185_uc004fgv.2_Silent_p.V158V|ZNF185_uc004fgx.2_Silent_p.V99V NM_007150 NP_009081 O15231 ZN185_HUMAN zinc finger protein 185 461 cytoplasm|cytoskeleton|focal adhesion zinc ion binding ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGCAACTTGTCAGACGAGAGA 0.607 NA 6 3 0 0 0 0 ATP8B2 57198 broad.mit.edu 37 1 154303375 154303378 + Frame_Shift_Del DEL ACTT ACTT - TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:154303375_154303378delACTT uc001fey.1 + 3 421_424 c.232_235delACTT c.(232-237)ACTTACfs p.T78fs ATP8B2_uc001few.2_Frame_Shift_Del_p.T59fs|ATP8B2_uc001fex.2_Frame_Shift_Del_p.T92fs NM_001005855 NP_001005855 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform b 78_79 Helical; (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGTTGCCAACACTTACTTCCTGTT 0.461 NA 7 49 --- --- --- --- NA NA NA NA ZIC2 7546 broad.mit.edu 37 13 100634394 100634396 + In_Frame_Del DEL GCG GCG - TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr13:100634394_100634396delGCG uc001von.2 + 1 76_78 c.76_78delGCG c.(76-78)GCGdel p.A33del NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 33 Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCACTccgccgcggcggcggcgg 0.616 NA 2 4 --- --- --- --- NA NA NA NA ARHGAP5 394 broad.mit.edu 37 14 32560503 32560516 + Frame_Shift_Del DEL AGAGAAGTTCAGGC AGAGAAGTTCAGGC - TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr14:32560503_32560516delAGAGAAGTTCAGGC uc001wrl.2 + 2 867_880 c.628_641delAGAGAAGTTCAGGC c.(628-642)AGAGAAGTTCAGGCAfs p.R210fs ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.R210fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.R210fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 210_214 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TCATTATCTTAGAGAAGTTCAGGCATTTGCTTCA 0.322 NA 9 58 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578180 7578181 + Frame_Shift_Ins INS - - T rs138983188 TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr17:7578180_7578181insT uc002gim.2 - 6 862_863 c.668_669insA c.(667-669)CCTfs p.P223fs TP53_uc002gig.1_Frame_Shift_Ins_p.P223fs|TP53_uc002gih.2_Frame_Shift_Ins_p.P223fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P91fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P91fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P91fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P223fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P223fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P223fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.P130fs|TP53_uc002gio.2_Frame_Shift_Ins_p.P91fs|TP53_uc010vug.1_Frame_Shift_Ins_p.P184fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 223 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> L (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> S (in a sporadic cancer; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.P223P(4)|p.P223L(4)|p.?(2)|p.P223H(2)|p.Y220_P223delYEPP(1)|p.P223S(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P223A(1)|p.P223fs*24(1)|p.P223R(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) ACCAGACCTCAGGCGGCTCATA 0.535 111 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) 8 20 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187628726 187628732 + Frame_Shift_Del DEL CAGTTTT CAGTTTT - TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr4:187628726_187628732delCAGTTTT uc003izf.2 - 2 2438_2444 c.2250_2256delAAAACTG c.(2248-2256)GGAAAACTGfs p.G750fs FAT1_uc010iso.1_Frame_Shift_Del_p.G750fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 750_752 Extracellular (Potential).|Cadherin 6. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CAGCATAGACCAGTTTTCCATTGAAGC 0.425 NA HNSCC(5;0.00058) 58 32 --- --- --- --- NA NA NA NA