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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut GPN2 54707 broad.mit.edu 37 1 27216290 27216290 + Missense_Mutation SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr1:27216290C>T uc001bnd.1 - 1 580 c.298G>A c.(298-300)GAC>AAC p.D100N NM_018066 NP_060536 Q9H9Y4 GPN2_HUMAN ATP binding domain 1 family, member B 100 GTP binding 0 CGGAGGGGGTCGAGCTTGGCA 0.667 NA 16 68 0 0 0.028581 0 0 KIAA1522 57648 broad.mit.edu 37 1 33237497 33237497 + Missense_Mutation SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr1:33237497C>T uc001bvv.2 + 6 2676 c.2540C>T c.(2539-2541)TCG>TTG p.S847L KIAA1522_uc001bvu.1_Missense_Mutation_p.S906L|KIAA1522_uc010ohm.1_Missense_Mutation_p.S858L|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 847 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CTGGGGCCATCGGCCCCCCAG 0.721 NA 8 15 0 0 0.047766 0 0 CSF1 1435 broad.mit.edu 37 1 110465931 110465931 + Missense_Mutation SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr1:110465931G>A uc001dyu.2 + 6 1101 c.688G>A c.(688-690)GAG>AAG p.E230K CSF1_uc001dyt.2_Missense_Mutation_p.E230K|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Missense_Mutation_p.E230K NM_172212 NP_757351 P09603 CSF1_HUMAN colony stimulating factor 1 isoform a precursor 230 Lumenal (Potential). cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) TGAGGGAACTGAGGGCAGCTC 0.662 NA OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 49 0 0 0.016723 0 0 AMPD1 270 broad.mit.edu 37 1 115222965 115222965 + Missense_Mutation SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr1:115222965C>T uc001efe.1 - 6 766 c.682G>A c.(682-684)GAG>AAG p.E228K AMPD1_uc001eff.1_Missense_Mutation_p.E224K NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 228 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GGCTTAGGCTCATCTTTGCTG 0.423 NA 4 53 0 0 0.009096 0 0 AQP10 89872 broad.mit.edu 37 1 154296116 154296116 + Missense_Mutation SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr1:154296116C>T uc001feu.2 + 5 581 c.541C>T c.(541-543)CGG>TGG p.R181W AQP10_uc001fev.2_Missense_Mutation_p.R181W|ATP8B2_uc001few.2_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN aquaporin 10 181 Cytoplasmic (Potential). response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1) 1 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCTGGACAGACGGAACAAGGG 0.612 NA 31 277 0 0 0.041601 0 0 DDR2 4921 broad.mit.edu 37 1 162740301 162740301 + Silent SNP A A G TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr1:162740301A>G uc001gcf.2 + 13 1968 c.1503A>G c.(1501-1503)TCA>TCG p.S501S DDR2_uc001gcg.2_Silent_p.S501S NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 501 Cytoplasmic (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) AGGAGGAGTCAGGTGAGGATG 0.527 NSCLC(161;314 2006 8283 19651 23192) NA 5 26 0 0 0.014758 0 0 C1orf58 148362 broad.mit.edu 37 1 222900585 222900585 + Missense_Mutation SNP T T C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr1:222900585T>C uc001hnq.1 + 8 1051 c.656T>C c.(655-657)TTC>TCC p.F219S C1orf58_uc010put.1_Missense_Mutation_p.F187S|C1orf58_uc010puu.1_Missense_Mutation_p.F219S|C1orf58_uc010puv.1_Missense_Mutation_p.F187S|uc001hnr.1_RNA NM_144695 NP_653296 Q5VW32 BROX_HUMAN Bro1-domain-containing protein 219 BRO1. membrane 0 GBM - Glioblastoma multiforme(131;0.0667) ACAGCCAATTTCTATCAAAAA 0.343 NA 10 42 0 0 0.010729 0 0 OR14A16 284532 broad.mit.edu 37 1 247978972 247978972 + Missense_Mutation SNP A A C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr1:247978972A>C uc001idm.1 - 1 60 c.60T>G c.(58-60)AAT>AAG p.N20K NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAATGCACATATTTTTATTGG 0.383 Ovarian(112;180 1586 15073 21914 33526) NA 8 18 0 0 0.010729 0 0 SVIL 6840 broad.mit.edu 37 10 29819539 29819539 + Silent SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr10:29819539G>A uc001iut.1 - 11 2856 c.2103C>T c.(2101-2103)TTC>TTT p.F701F SVIL_uc001iuu.1_Silent_p.F307F NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 701 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) AGCTTACCCTGAAAAGCAACC 0.348 NA 16 73 0 0 0.0333 0 0 AMPD3 272 broad.mit.edu 37 11 10500113 10500113 + Silent SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr11:10500113C>T uc001mio.1 + 3 597 c.262C>T c.(262-264)CTG>TTG p.L88L AMPD3_uc010rbz.1_Intron|AMPD3_uc001min.1_Silent_p.L97L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Silent_p.L88L|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.L95L|AMPD3_uc009yfy.2_Silent_p.L88L NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 88 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GTCCCTGTCTCTGCAAATGCC 0.547 NA 11 234 0 0 0.010729 0 0 KAT5 10524 broad.mit.edu 37 11 65482336 65482336 + Silent SNP C C G TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr11:65482336C>G uc001ofi.2 + 9 1135 c.885C>G c.(883-885)CGC>CGG p.R295R KAT5_uc001ofj.2_Silent_p.R243R|KAT5_uc001ofk.2_Silent_p.R328R|KAT5_uc010roo.1_Silent_p.R276R|KAT5_uc001ofl.2_Silent_p.R84R NM_006388 NP_006379 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 isoform 2 295 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity 0 AGATTTACCGCAAGGGCACCA 0.522 NA 26 66 0 0 0.027356 0 0 C11orf63 79864 broad.mit.edu 37 11 122774779 122774779 + Missense_Mutation SNP A A G rs147035469 byFrequency TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr11:122774779A>G uc001pym.2 + 3 788 c.491A>G c.(490-492)TAC>TGC p.Y164C C11orf63_uc001pyl.1_Missense_Mutation_p.Y164C NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 164 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GCTCCCCTCTACCCTTCCCAG 0.517 NA 15 61 0 0 0.020292 0 0 KRT73 319101 broad.mit.edu 37 12 53012246 53012246 + Silent SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr12:53012246G>A uc001sas.2 - 1 98 c.63C>T c.(61-63)TCC>TCT p.S21S NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 21 Head.|Gly-rich. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) AGAGCACAGCGGAGCAGCCGC 0.642 NA 26 86 0 0 0.024334 0 0 FOXA1 3169 broad.mit.edu 37 14 38061461 38061461 + Missense_Mutation SNP G G C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr14:38061461G>C uc001wuf.2 - 2 840 c.528C>G c.(526-528)ATC>ATG p.I176M FOXA1_uc010tpz.1_Missense_Mutation_p.I143M NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 176 Fork-head. chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TGATGAGCGAGATGTACGAGT 0.517 NA 15 73 0 0 0.024245 0 0 PAPOLA 10914 broad.mit.edu 37 14 97022682 97022682 + Missense_Mutation SNP A A G TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr14:97022682A>G uc001yfq.2 + 19 2146 c.1936A>G c.(1936-1938)ATA>GTA p.I646V PAPOLA_uc001yfr.2_Missense_Mutation_p.I645V|PAPOLA_uc010twv.1_Missense_Mutation_p.I646V|PAPOLA_uc010avp.2_Missense_Mutation_p.I396V NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 646 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) ACCTACTCCTATAGTAGGAGT 0.398 NSCLC(19;254 734 11908 35501 39234) NA 6 34 0 0 0.021553 0 0 PDIA3 2923 broad.mit.edu 37 15 44038800 44038800 + Silent SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr15:44038800C>T uc001zsu.2 + 1 211 c.63C>T c.(61-63)CTC>CTT p.L21L PDIA3_uc010bdp.2_5'UTR|PDIA3_uc010ued.1_Intron|CATSPER2P1_uc001zss.2_5'Flank|CATSPER2P1_uc001zst.2_RNA NM_005313 NP_005304 P30101 PDIA3_HUMAN protein disulfide-isomerase A3 precursor 21 cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1)|skin(1) 2 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) CGGCCCGCCTCGCCGCTGCCT 0.706 NA 12 26 0 0 0.010729 0 0 THSD4 79875 broad.mit.edu 37 15 72020908 72020908 + Missense_Mutation SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr15:72020908C>T uc002atb.1 + 8 1457 c.1378C>T c.(1378-1380)CGC>TGC p.R460C THSD4_uc002atd.1_Missense_Mutation_p.R134C|THSD4_uc010ukg.1_Missense_Mutation_p.R100C|THSD4_uc002ate.2_Missense_Mutation_p.R100C NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 460 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 TCGTTCTGGACGCTCCATCAT 0.507 NA 9 50 0 0 0.069234 0 0 PDILT 204474 broad.mit.edu 37 16 20370667 20370667 + Missense_Mutation SNP T T C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr16:20370667T>C uc002dhc.1 - 12 1952 c.1729A>G c.(1729-1731)AAA>GAA p.K577E NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 577 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 ACTTTTGGTTTCTTCTTTTGC 0.448 NA 26 166 0 0 0.01892 0 0 TMCO7 79613 broad.mit.edu 37 16 68941376 68941376 + Silent SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr16:68941376G>A uc002ewi.3 + 10 1710 c.1698G>A c.(1696-1698)CAG>CAA p.Q566Q NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 566 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) CCCTGTACCAGAAGGTATCCT 0.473 NA 8 77 0 0 0.058154 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064470 78064470 + Missense_Mutation SNP A A G TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr16:78064470A>G uc002ffh.3 + 3 407 c.326A>G c.(325-327)GAC>GGC p.D109G NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 109 C-type lectin. skeletal system development extracellular region sugar binding 0 AGGAACTCCGACGAAATCAAC 0.473 NA 8 61 0 0 0.038147 0 0 ZNF407 55628 broad.mit.edu 37 18 72344697 72344697 + Silent SNP A A G TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr18:72344697A>G uc002llw.2 + 1 1779 c.1722A>G c.(1720-1722)GAA>GAG p.E574E ZNF407_uc010xfc.1_Silent_p.E574E|ZNF407_uc010dqu.1_Silent_p.E574E|ZNF407_uc002llu.2_Silent_p.E573E NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 574 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ACTTAGATGAACATTTGCACA 0.398 NA 8 114 0 0 0.038147 0 0 LONP1 9361 broad.mit.edu 37 19 5694505 5694505 + Missense_Mutation SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr19:5694505G>A uc002mcx.2 - 15 2246 c.2213C>T c.(2212-2214)ACG>ATG p.T738M LONP1_uc002mcy.2_Missense_Mutation_p.T674M|LONP1_uc010duh.2_Missense_Mutation_p.T479M|LONP1_uc010dui.2_Missense_Mutation_p.T722M|LONP1_uc002mcz.2_Missense_Mutation_p.T542M NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 738 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 GTTCTCGGGCGTCACCTCCAC 0.647 NA 13 78 0 0 0.016723 0 0 SOS1 6654 broad.mit.edu 37 2 39278344 39278344 + Missense_Mutation SNP T T C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr2:39278344T>C uc002rrk.3 - 6 846 c.805A>G c.(805-807)ATG>GTG p.M269V SOS1_uc010ynr.1_RNA|SOS1_uc002rrl.2_Missense_Mutation_p.M1V NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 269 DH. M -> R (in NS4).|M -> T (in NS4). apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) TCATCTGTCATTTCTACTGTA 0.378 NA Noonan_syndrome 4 22 0 0 0.009096 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125671706 125671706 + Silent SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr2:125671706C>T uc002tno.2 + 24 4126 c.3762C>T c.(3760-3762)ATC>ATT p.I1254I CNTNAP5_uc010flu.2_Silent_p.I1255I NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1254 Helical; (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TCTTCTGTATCATCGGCATCA 0.473 NA 5 41 0 0 0.02938 0 0 GPR17 2840 broad.mit.edu 37 2 128409116 128409116 + Silent SNP C C T rs144990681 TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr2:128409116C>T uc010yzn.1 + 4 1502 c.891C>T c.(889-891)TGC>TGT p.C297C LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.C297C|GPR17_uc010yzo.1_Silent_p.C269C|GPR17_uc002tpd.2_Silent_p.C269C NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 297 Extracellular (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) GGGCCTCCTGCGCCACCCAGC 0.622 NA 9 59 0 0 0.047766 0 0 CASP8 841 broad.mit.edu 37 2 202131375 202131375 + Nonsense_Mutation SNP G G T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr2:202131375G>T uc002uxr.1 + 3 375 c.166G>T c.(166-168)GAA>TAA p.E56* CASP8_uc010ftc.1_Nonsense_Mutation_p.E56*|CASP8_uc002uxo.1_Nonsense_Mutation_p.E56*|CASP8_uc002uxp.1_Nonsense_Mutation_p.E56*|CASP8_uc002uxq.1_Nonsense_Mutation_p.E56*|CASP8_uc002uxs.1_Nonsense_Mutation_p.E56*|CASP8_uc002uxt.1_Nonsense_Mutation_p.E115*|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Nonsense_Mutation_p.E56*|CASP8_uc002uxw.1_Nonsense_Mutation_p.E56*|CASP8_uc002uxy.1_Nonsense_Mutation_p.E56*|CASP8_uc002uxx.1_Nonsense_Mutation_p.E56*|CASP8_uc010ftf.2_Nonsense_Mutation_p.E56* NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 56 DED 1. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 AATGTTGGAGGAAAGCAATCT 0.453 Melanoma(82;831 1348 20716 36952 40159) NA HNSCC(4;0.00038) 5 26 0.000602214 0.000627307 0.014758 1 0 CASP8 841 broad.mit.edu 37 2 202137390 202137390 + Missense_Mutation SNP G G C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr2:202137390G>C uc002uxr.1 + 5 650 c.441G>C c.(439-441)GAG>GAC p.E147D CASP8_uc010ftc.1_Missense_Mutation_p.E147D|CASP8_uc002uxo.1_Missense_Mutation_p.E147D|CASP8_uc002uxp.1_Missense_Mutation_p.E179D|CASP8_uc002uxq.1_Missense_Mutation_p.E147D|CASP8_uc002uxs.1_Missense_Mutation_p.E147D|CASP8_uc002uxt.1_Missense_Mutation_p.E206D|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Missense_Mutation_p.E44D|CASP8_uc002uxv.1_Missense_Mutation_p.E147D|CASP8_uc002uxw.1_Missense_Mutation_p.E147D|CASP8_uc002uxy.1_Missense_Mutation_p.E147D|CASP8_uc002uxx.1_Missense_Mutation_p.E147D|CASP8_uc010ftf.2_Missense_Mutation_p.E147D|CASP8_uc010fte.1_Missense_Mutation_p.E44D NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 147 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 TAGAGATGGAGAAGAGGGTCA 0.398 Melanoma(82;831 1348 20716 36952 40159) NA HNSCC(4;0.00038) 23 73 0 0 0.062417 0 0 ANO7 50636 broad.mit.edu 37 2 242148934 242148934 + Missense_Mutation SNP G G C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr2:242148934G>C uc002wax.2 + 13 1508 c.1405G>C c.(1405-1407)GCC>CCC p.A469P NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 469 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 GCCCCAGTTTGCCGCCTCAGC 0.711 NA 4 23 0 0 0.009096 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr20:29628263A>G uc010ztl.1 + 3 207 c.175A>G c.(175-177)ATT>GTT p.I59V FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 TAGCTGCTTTATTAGATGCAA 0.363 NA 3 11 0 0 0.004672 0 0 PRSS45 377047 broad.mit.edu 37 3 46784015 46784015 + Missense_Mutation SNP A A C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr3:46784015A>C uc010hjl.2 - 4 512 c.512T>G c.(511-513)GTG>GGG p.V171G PRSS45_uc011bam.1_RNA NM_199183 NP_954652 Q7RTY3 PRS45_HUMAN testis serine protease 5 203 Peptidase S1. proteolysis serine-type endopeptidase activity 0 CCAGGACAACACCCCAGCCAG 0.527 NA 6 59 0 0 0.024245 0 0 NDUFAF3 25915 broad.mit.edu 37 3 49060156 49060156 + Missense_Mutation SNP A A G TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr3:49060156A>G uc003cvq.2 + 3 796 c.292A>G c.(292-294)ACC>GCC p.T98A DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|uc011bcb.1_5'Flank|MIR425_hsa-mir-425|MI0001448_5'Flank|NDUFAF3_uc003cvn.2_Missense_Mutation_p.T41A|uc003cvo.1_5'Flank|MIR191_hsa-mir-191|MI0000465_5'Flank|NDUFAF3_uc003cvp.2_Missense_Mutation_p.T41A|NDUFAF3_uc003cvr.2_Missense_Mutation_p.T41A|NDUFAF3_uc003cvs.2_Missense_Mutation_p.T41A NM_199069 NP_951032 Q9BU61 NDUF3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 98 mitochondrial respiratory chain complex I assembly mitochondrial inner membrane|nucleus protein binding 0 CCAGGACATCACCGAAGACAG 0.592 NA 31 198 0 0 0.050027 0 0 MST1R 4486 broad.mit.edu 37 3 49928032 49928032 + Silent SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr3:49928032G>A uc003cxy.3 - 18 3960 c.3696C>T c.(3694-3696)GAC>GAT p.D1232D MST1R_uc011bdc.1_Silent_p.D111D NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1232 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGTCCAGGATGTCGCGGGCCA 0.557 NA 6 25 0 0 0.021553 0 0 CD200 4345 broad.mit.edu 37 3 112068653 112068653 + Silent SNP G G C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr3:112068653G>C uc003dyw.2 + 6 1008 c.864G>C c.(862-864)CGG>CGC p.R288R CD200_uc010hqd.1_Silent_p.R147R|CD200_uc003dyx.2_Silent_p.R263R|CD200_uc003dyy.2_Silent_p.R147R|CD200_uc003dyz.2_Silent_p.R189R NM_001004196 NP_001004196 P41217 OX2G_HUMAN CD200 antigen isoform b 263 Cytoplasmic (Potential). regulation of immune response integral to plasma membrane 0 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) AACGTCACCGGAATCAGGACC 0.358 NA 2 4 0 0 0.004672 0 0 PLXNA1 5361 broad.mit.edu 37 3 126747837 126747837 + Silent SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr3:126747837G>A uc003ejg.2 + 25 4606 c.4602G>A c.(4600-4602)GAG>GAA p.E1534E PLXNA1_uc003ejh.2_Silent_p.E202E NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1557 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CTCCCCCAGAGTGGCGCCAGG 0.647 NA 6 27 0 0 0.021553 0 0 Unknown 0 broad.mit.edu 37 3 129137132 129137132 + Missense_Mutation SNP T T G TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr3:129137132T>G uc003emg.2 - 3 809 c.646A>C c.(646-648)ATC>CTC p.I216L NM_207307 NP_997190 hypothetical protein LOC90288 NA TCCCTGGTGATTCTCTGGTTC 0.547 NA 7 27 0 0 0.038147 0 0 COL25A1 84570 broad.mit.edu 37 4 109817864 109817864 + Missense_Mutation SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr4:109817864C>T uc003hze.1 - 15 1396 c.865G>A c.(865-867)GAC>AAC p.D289N COL25A1_uc003hzg.2_Missense_Mutation_p.D289N|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.D70N NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 289 Extracellular (Potential).|Collagen-like 3. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TCTCCAGCGTCTCCCTGAGGA 0.393 NA 8 19 0 0 0.047766 0 0 NAA15 80155 broad.mit.edu 37 4 140265339 140265339 + Splice_Site SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr4:140265339G>A uc003ihu.1 + 6 794 c.538_splice c.e6-1 p.T180_splice NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 TCCATATACAGACATCCCCTG 0.333 NA 4 22 0 0 0.009096 0 0 TRIM60 166655 broad.mit.edu 37 4 165962566 165962566 + Missense_Mutation SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr4:165962566G>A uc003iqy.1 + 3 1512 c.1342G>A c.(1342-1344)GTT>ATT p.V448I TRIM60_uc010iqx.1_Missense_Mutation_p.V448I NM_152620 NP_689833 Q495X7 TRI60_HUMAN ring finger protein 129 448 B30.2/SPRY. intracellular zinc ion binding skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) CACAGAAGCCGTTTGGCCTTA 0.348 NA 5 24 0 0 0.021553 0 0 FAM149A 25854 broad.mit.edu 37 4 187084634 187084634 + Missense_Mutation SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr4:187084634C>T uc003iyt.3 + 10 1469 c.890C>T c.(889-891)CCG>CTG p.P297L FAM149A_uc011cla.1_Missense_Mutation_p.P297L|FAM149A_uc003iyu.3_Missense_Mutation_p.P297L|FAM149A_uc010isl.2_Missense_Mutation_p.P297L|FAM149A_uc011clb.1_Missense_Mutation_p.P297L NM_015398 NP_056213 A5PLN7 F149A_HUMAN hypothetical protein LOC25854 588 breast(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) TCCTCCGCACCGCACAGACTG 0.493 NA 10 62 0 0 0.010729 0 0 GPR98 84059 broad.mit.edu 37 5 89923108 89923108 + Silent SNP C C A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr5:89923108C>A uc003kju.2 + 7 849 c.753C>A c.(751-753)TCC>TCA p.S251S GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 251 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTAGGAATTCCATTGAGATCA 0.343 NA 3 14 6.4e-05 6.85714e-05 0.004672 1 0 SPRY4 81848 broad.mit.edu 37 5 141693820 141693820 + Missense_Mutation SNP G G C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr5:141693820G>C uc003lml.2 - 2 1113 c.854C>G c.(853-855)GCA>GGA p.A285G SPRY4_uc010jgi.1_Missense_Mutation_p.A308G NM_001127496 NP_001120968 Q9C004 SPY4_HUMAN sprouty homolog 4 isoform 2 285 multicellular organismal development cytoplasm|ruffle membrane protein binding ovary(1)|lung(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGCTGGCTGCTTTGCAGAT 0.627 NA Testicular_Cancer_Familial_Clustering_of 8 60 0 0 0.047766 0 0 CAMK2A 815 broad.mit.edu 37 5 149636177 149636177 + Silent SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr5:149636177G>A uc003lru.2 - 6 585 c.370C>T c.(370-372)CTG>TTG p.L124L CAMK2A_uc003lrt.2_Silent_p.L124L|CAMK2A_uc010jhe.2_Silent_p.L104L|CAMK2A_uc010jhf.1_5'UTR NM_171825 NP_741960 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II 124 Protein kinase. interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1) 1 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGCAGTGCAGCACAGCCTCC 0.642 NA 3 48 0 0 0.004672 0 0 KCNMB1 3779 broad.mit.edu 37 5 169812334 169812334 + Missense_Mutation SNP G G T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr5:169812334G>T uc003maq.1 - 2 518 c.118C>A c.(118-120)CCC>ACC p.P40T KCNIP1_uc003map.2_Intron|KCNMB1_uc003mar.2_Missense_Mutation_p.P40T NM_004137 NP_004128 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated 40 Extracellular (Potential). platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity ovary(2) 2 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) TGGTAGAGGGGCAGCACAGTC 0.597 NA 13 107 0.00010058 0.000106246 0.013537 1 0 F13A1 2162 broad.mit.edu 37 6 6167746 6167746 + Missense_Mutation SNP T T C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr6:6167746T>C uc003mwv.2 - 13 1976 c.1853A>G c.(1852-1854)GAT>GGT p.D618G F13A1_uc011dib.1_Missense_Mutation_p.D555G NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 618 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGCCAGAACATCCCTGGTCTC 0.537 NA 10 35 0 0 0.058154 0 0 MAP7 9053 broad.mit.edu 37 6 136681011 136681011 + Missense_Mutation SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr6:136681011G>A uc003qgz.2 - 15 2105 c.1859C>T c.(1858-1860)ACC>ATC p.T620I MAP7_uc011edf.1_Missense_Mutation_p.T605I|MAP7_uc011edg.1_Missense_Mutation_p.T650I|MAP7_uc010kgu.2_Missense_Mutation_p.T642I|MAP7_uc011edh.1_Missense_Mutation_p.T605I|MAP7_uc010kgv.2_Missense_Mutation_p.T642I|MAP7_uc010kgs.2_Missense_Mutation_p.T474I|MAP7_uc011edi.1_Missense_Mutation_p.T474I|MAP7_uc010kgq.1_Missense_Mutation_p.T526I|MAP7_uc003qha.1_Missense_Mutation_p.T583I NM_003980 NP_003971 Q14244 MAP7_HUMAN microtubule-associated protein 7 620 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CTGATCACTGGTTTTCTACGA 0.328 NA 16 63 0 0 0.038395 0 0 GRM1 2911 broad.mit.edu 37 6 146351336 146351336 + Missense_Mutation SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr6:146351336C>T uc010khw.1 + 2 1153 c.683C>T c.(682-684)TCT>TTT p.S228F GRM1_uc010khu.1_Missense_Mutation_p.S228F|GRM1_uc010khv.1_Missense_Mutation_p.S228F|GRM1_uc003qll.2_Missense_Mutation_p.S228F|GRM1_uc011edz.1_Missense_Mutation_p.S228F|GRM1_uc011eea.1_Missense_Mutation_p.S228F NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 228 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ACCTATGTCTCTGCAGTCCAC 0.448 NA 10 45 0 0 0.069234 0 0 TNFRSF10B 8795 broad.mit.edu 37 8 22926500 22926500 + Translation_Start_Site SNP G G C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr8:22926500G>C uc003xcu.2 - 1 201 c.-92C>G c.(-94--90)ATCTC>ATGTC uc003xcw.1_Intron|TNFRSF10B_uc003xct.2_Translation_Start_Site|TNFRSF10B_uc011kzq.1_Translation_Start_Site|TNFRSF10B_uc003xcv.2_Translation_Start_Site NM_003842 NP_003833 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding 0 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) TGGGCGCAGAGATTGCGGGGT 0.597 GBM(94;1064 1342 1839 21060 42553) NA 6 26 0 0 0.021553 0 0 WRN 7486 broad.mit.edu 37 8 30945312 30945312 + Missense_Mutation SNP T T A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr8:30945312T>A uc003xio.3 + 12 2240 c.1452T>A c.(1450-1452)AGT>AGA p.S484R WRN_uc011lbe.1_Missense_Mutation_p.S12R|WRN_uc010lvk.2_5'UTR NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 484 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) ACCTCAATAGTGGCACGGTAG 0.279 Ovarian(18;161 598 2706 14834 27543) NA Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 4 24 0 0 0.014758 0 0 NRG1 3084 broad.mit.edu 37 8 32621515 32621515 + Silent SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr8:32621515G>A uc003xiv.2 + 12 2035 c.1518G>A c.(1516-1518)GCG>GCA p.A506A NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Silent_p.A511A|NRG1_uc003xiw.2_Silent_p.A503A|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Silent_p.A248A|NRG1_uc010lvs.2_Silent_p.A248A|NRG1_uc010lvp.2_Silent_p.A460A|NRG1_uc010lvq.2_Silent_p.A443A|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Silent_p.A349A|NRG1_uc003xja.2_Silent_p.A317A NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 506 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) ACAACCCCGCGCATGACAGTA 0.542 NA 4 33 0 0 0.009096 0 0 TESK1 7016 broad.mit.edu 37 9 35609179 35609179 + Missense_Mutation SNP T T C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr9:35609179T>C uc003zxa.2 + 10 1657 c.1321T>C c.(1321-1323)TCC>CCC p.S441P TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.S281P NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 441 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACTACCCTCATCCCCCGAGCT 0.672 NA 7 66 0 0 0.037714 0 0 APBA1 320 broad.mit.edu 37 9 72131361 72131361 + Missense_Mutation SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr9:72131361C>T uc004ahh.2 - 2 1042 c.766G>A c.(766-768)GCG>ACG p.A256T NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 256 Munc-18-1 binding. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 GGGTAGGGCGCGAACTCGGCC 0.687 NA 7 32 0 0 0.038147 0 0 HSPA5 3309 broad.mit.edu 37 9 128000573 128000573 + Missense_Mutation SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr9:128000573G>A uc004bpn.2 - 7 1505 c.1249C>T c.(1249-1251)CTT>TTT p.L417F NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 417 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) CATACATCAAGCAGTACCAGG 0.398 NA Prostate(1;0.17) 11 32 0 0 0.020292 0 0 MXRA5 25878 broad.mit.edu 37 X 3241386 3241386 + Silent SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chrX:3241386C>T uc004crg.3 - 5 2497 c.2340G>A c.(2338-2340)CCG>CCA p.P780P NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 780 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCCAGCGCTCCGGATTAATCT 0.453 NA 14 57 0 0 0.020292 0 0 MSL3 10943 broad.mit.edu 37 X 11783605 11783605 + Missense_Mutation SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chrX:11783605C>T uc004cuw.2 + 9 1033 c.928C>T c.(928-930)CCC>TCC p.P310S MSL3_uc004cuv.1_Missense_Mutation_p.P310S|MSL3_uc004cux.2_Missense_Mutation_p.P251S|MSL3_uc011mig.1_Missense_Mutation_p.P161S|MSL3_uc011mih.1_Missense_Mutation_p.P298S|MSL3_uc004cuy.2_Missense_Mutation_p.P144S NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 310 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGAACTCTCTCCCAGTCCGCC 0.557 NA 4 121 0 0 0.014758 0 0 PLP2 5355 broad.mit.edu 37 X 49029495 49029495 + Missense_Mutation SNP T T C TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chrX:49029495T>C uc004dmx.2 + 2 191 c.116T>C c.(115-117)CTG>CCG p.L39P NM_002668 NP_002659 Q04941 PLP2_HUMAN proteolipid protein 2 (colonic 39 Helical; (Potential).|MARVEL. chemotaxis|cytokine-mediated signaling pathway endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane chemokine binding|ion transmembrane transporter activity 0 CTGGTGATCCTGATCTGCTTC 0.493 NA 6 29 0 0 0.02938 0 0 MSN 4478 broad.mit.edu 37 X 64959737 64959737 + Silent SNP C C T TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chrX:64959737C>T uc004dwf.2 + 13 1914 c.1716C>T c.(1714-1716)GAC>GAT p.D572D NM_002444 NP_002435 P26038 MOES_HUMAN moesin 572 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 AGCGCATTGACGAATTTGAGT 0.532 NA T ALK ALCL 7 82 0 0 0.047766 0 0 ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 CCA CCA - - CCA CCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr16:72991713_72991715delCCA uc002fck.2 - 2 3003_3005 c.2330_2332delTGG c.(2329-2334)GTGGCT>GCT p.V777del ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 777 Poly-Ala. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.458 NA 7 157 --- --- --- --- NA NA NA NA NA VEZF1 7716 broad.mit.edu 37 17 56056604 56056605 + In_Frame_Ins INS - - TGC rs138088904 byFrequency TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 520db804-4c03-4a0c-9966-fc0c9f98cfec 4b84f6af-2361-4e9b-9c8c-f1cbeb8513f2 g.chr17:56056604_56056605insTGC uc002ivf.1 - 5 1189_1190 c.1046_1047insGCA c.(1045-1047)CAA>CAGCAA p.349_349Q>QQ VEZF1_uc010dcn.1_In_Frame_Ins_p.199_199Q>QQ NM_007146 NP_009077 Q14119 VEZF1_HUMAN zinc finger protein 161 349 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 gttgttgttgttgctgctgctg 0.307 NA 10 120 --- --- --- --- NA NA NA NA NA