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_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut NPR3 4883 broad.mit.edu 37 5 32774825 32774825 + Silent SNP T T C TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr5:32774825T>C uc003jhv.3 + 3 1516 c.1071T>C c.(1069-1071)ttT>ttC p.F357F NPR3_uc010iuo.3_Silent_p.F141F|NPR3_uc003jhw.2_Silent_p.F141F|NPR3_uc003jhu.3_Silent_p.F357F NM_001204375 NP_001191304 P17342 ANPRC_HUMAN Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA. 357 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) TTAACATGTTTGTTGAAGGAT 0.433000 6 282 0 0 1 0 0 AP4S1 11154 broad.mit.edu 37 14 31553973 31553973 + Splice_Site SNP A A T TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr14:31553973A>T uc001wqw.4 + 6 756 c.367_splice c.e6-2 p.E123_splice AP4S1_uc021rry.1_Intron|AP4S1_uc001wqx.4_Splice_Site|AP4S1_uc010amh.3_Splice_Site_p.E99_splice|AP4S1_uc001wqy.4_Intron|AP4S1_uc021rrz.1_Intron NM_007077 NP_009008 Q9Y587 AP4S1_HUMAN Homo sapiens adaptor-related protein complex 4, sigma 1 subunit (AP4S1), transcript variant 1, mRNA. 21 Golgi apparatus|coated pit protein transporter activity lung(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221) GBM - Glioblastoma multiforme(265;0.00553) TGTTTTTTTTAGGAACCAATT 0.413000 4 133 0 0 1 0 0 ALAD 210 broad.mit.edu 37 9 116151734 116151734 + Missense_Mutation SNP C C A TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr9:116151734C>A uc004bhl.4 - 9 1153 c.872G>T c.(871-873)cGg>cTg p.R291L ALAD_uc011lxe.2_Missense_Mutation_p.R245L|ALAD_uc011lxf.2_Missense_Mutation_p.R262L P13716 HEM2_HUMAN Homo sapiens aminolevulinate dehydratase (ALAD), mRNA. 262 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1) 9 Aminolevulinic acid(DB00855) CTTTACCTCCCGCACGATGTC 0.567000 3 77 0 0 1 0 0 CLMP 79827 broad.mit.edu 37 11 122968529 122968529 + Missense_Mutation SNP T T C TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr11:122968529T>C uc001pyt.3 - 1 519 c.160A>G c.(160-162)Acc>Gcc p.T54A NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN Homo sapiens CXADR-like membrane protein (CLMP), mRNA. 54 Ig-like C2-type 1. integral to membrane|tight junction endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 14 TCATTATCGGTGAGCAGCCAT 0.493000 4 124 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31854884 31854884 + Missense_Mutation SNP G G A TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chrX:31854884G>A uc004dda.1 - 48 7395 c.7151C>T c.(7150-7152)tCt>tTt p.S2384F 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.S1040F|DMD_uc004dcx.2_Missense_Mutation_p.S1043F|DMD_uc004dcz.2_Missense_Mutation_p.S2261F|DMD_uc004dcy.1_Missense_Mutation_p.S2380F|DMD_uc004ddb.1_Missense_Mutation_p.S2376F|DMD_uc004ddd.1_5'UTR NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 2384 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 NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 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) CTGCCCTTTAGACAAAATCTC 0.408000 5 98 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173934152 173934152 + Missense_Mutation SNP C C T TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr1:173934152C>T uc010pmt.2 - 8 1528 c.1441G>A c.(1441-1443)Ggt>Agt p.G481S RC3H1_uc001gju.4_Missense_Mutation_p.G481S|RC3H1_uc010pms.2_Missense_Mutation_p.G481S|RC3H1_uc001gjv.3_Missense_Mutation_p.G481S NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA. 481 cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TCCACTGCACCTTCATCTGGA 0.498000 3 121 0 0 1 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050830 110050830 + Silent SNP G G A TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr1:110050830G>A uc001dxx.4 - 1 1087 c.705C>T c.(703-705)caC>caT p.H235H AMIGO1_uc021org.1_Silent_p.H235H NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA. 235 LRRCT. axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) GATACTGCCAGTGTGAAAACA 0.517000 3 83 0 0 1 0 0 APCDD1 147495 broad.mit.edu 37 18 10485461 10485461 + Missense_Mutation SNP C C A TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr18:10485461C>A uc002kom.4 + 3 1131 c.777C>A c.(775-777)aaC>aaA p.N259K NM_153000 NP_694545 Q8J025 APCD1_HUMAN Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA. 259 Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) GGCTTCAGAACCACGACCATG 0.577000 5 134 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46811989 46811989 + Missense_Mutation SNP C C T TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr19:46811989C>T uc002peh.3 + 4 549 c.518C>T c.(517-519)aCc>aTc p.T173I HIF3A_uc002pef.2_Missense_Mutation_p.T173I|HIF3A_uc002peg.4_Missense_Mutation_p.T173I|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.T117I|HIF3A_uc002pej.2_Missense_Mutation_p.T104I|HIF3A_uc010xxy.2_Missense_Mutation_p.T104I|HIF3A_uc002pel.3_Missense_Mutation_p.T171I|HIF3A_uc010xxz.2_Missense_Mutation_p.T122I NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) AGTACACTCACCAGCCGCGGG 0.716000 5 5 0 0 1 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30118255 30118255 + Missense_Mutation SNP C C T TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr7:30118255C>T uc003taq.3 + 13 1814 c.1412C>T c.(1411-1413)aCc>aTc p.T471I PLEKHA8_uc022aba.1_Intron|PLEKHA8_uc003tan.3_Intron NM_001197026 NP_001183955 Q96JA3 PKHA8_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA. 471 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 GCCGCGTTAACCGTAAAGGAA 0.488000 4 87 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85785580 85785580 + Missense_Mutation SNP C C G TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr8:85785580C>G uc003yct.4 + 6 806 c.672C>G c.(670-672)gaC>gaG p.D224E RALYL_uc003ycq.4_Missense_Mutation_p.D211E|RALYL_uc003ycr.4_Missense_Mutation_p.D211E|RALYL_uc003ycs.4_Missense_Mutation_p.D211E|RALYL_uc010lzy.3_Missense_Mutation_p.D200E|RALYL_uc003ycu.4_Missense_Mutation_p.D138E NM_001100391 NP_776247 Q86SE5 RALYL_HUMAN Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA. 211 RNA binding|identical protein binding|nucleotide binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 CTAAAATTGACTCCTTGCTAG 0.428000 2 14 0 0 1 0 0 HIST1H4L 8368 broad.mit.edu 37 6 27841025 27841025 + Silent SNP A A T TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr6:27841025A>T uc003njz.3 - 0 265 c.264T>A c.(262-264)gtT>gtA p.V88V HIST1H3I_uc003njy.3_5'Flank NM_003546 NP_778224 P62805 H4_HUMAN Homo sapiens histone cluster 1, H4l (HIST1H4L), mRNA. 88 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 13 TGAGCGCGTAAACCACGTCCA 0.542000 36 48 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8808196 8808196 + Missense_Mutation SNP T T C TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr17:8808196T>C uc002glt.3 - 4 377 c.310A>G c.(310-312)Aag>Gag p.K104E PIK3R5_uc010vuz.2_Missense_Mutation_p.K104E|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR NM_014308 NP_001238784 Q8WYR1 PI3R5_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA. 104 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CTGGCTGCCTTCAGAAGGAGA 0.552000 27 50 0 0 1 0 0 ZHX3 23051 broad.mit.edu 37 20 39831621 39831621 + Silent SNP T T G TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr20:39831621T>G uc002xjr.1 - 3 2399 c.1936A>C c.(1936-1938)Aga>Cga p.R646R ZHX3_uc002xjs.1_Silent_p.R646R|ZHX3_uc002xjt.1_Silent_p.R646R|ZHX3_uc002xju.1_Silent_p.R646R|ZHX3_uc002xjv.1_Silent_p.R646R|ZHX3_uc002xjw.1_Silent_p.R646R|ZHX3_uc010ggg.1_Silent_p.R646R NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA. 646 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) GTTTCACTTCTCAGGCGGTCC 0.493000 6 254 0 0 1 0 0 PHF21A 51317 broad.mit.edu 37 11 45959840 45959840 + Silent SNP G G A TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr11:45959840G>A uc001ncc.4 - 14 2097 c.1473C>T c.(1471-1473)tgC>tgT p.C491C PHF21A_uc001ncb.4_Silent_p.C445C|PHF21A_uc009ykx.3_Silent_p.C445C|PHF21A_uc001nca.1_Silent_p.C227C NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA. 491 Required for transcriptional repression. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 TGCAAACGCTGCAAAAATCCT 0.393000 4 94 0 0 1 0 0 RBPMS 11030 broad.mit.edu 37 8 30361916 30361916 + Silent SNP G G A TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr8:30361916G>A uc011lba.1 + 4 1025 c.360G>A c.(358-360)ctG>ctA p.L120L RBPMS_uc003xic.1_Silent_p.L120L|RBPMS_uc003xid.1_Silent_p.L120L|RBPMS_uc003xie.1_Silent_p.L120L|RBPMS_uc003xif.1_Non-coding_Transcript|RBPMS_uc003xib.3_Silent_p.L120L|RBPMS_uc010lvh.1_Silent_p.L16L NM_006867 NP_006858 Q93062 RBPMS_HUMAN Homo sapiens RNA binding protein with multiple splicing (RBPMS), transcript variant 4, mRNA. 120 RNA processing|positive regulation of SMAD protein import into nucleus|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) GTACTCCTCTGCCCAACACTG 0.433000 12 131 0 0 1 0 0 RNF14 9604 broad.mit.edu 37 5 141364442 141364442 + Silent SNP C C G TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr5:141364442C>G uc003llz.3 + 7 1559 c.1311C>G c.(1309-1311)ctC>ctG p.L437L RNF14_uc003lly.3_Silent_p.L437L|RNF14_uc003lma.3_Silent_p.L437L|RNF14_uc003lmb.3_Silent_p.L311L|RNF14_uc003lmc.3_Silent_p.L437L|RNF14_uc011dbg.2_Silent_p.L261L|RNF14_uc011dbh.2_Silent_p.L134L|RNF14_uc003lmd.3_Silent_p.L437L NM_001201365 NP_001188294 Q9UBS8 RNF14_HUMAN Homo sapiens ring finger protein 14 (RNF14), transcript variant 6, mRNA. 437 Interaction with androgen receptor. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) TGGGTTCTCTCTCTAGAGCAA 0.403000 4 229 0 0 1 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313344 1313344 + Silent SNP G G T TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr6:1313344G>T uc003mtl.4 + 0 670 c.405G>T c.(403-405)tcG>tcT p.S135S NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN Homo sapiens forkhead box Q1 (FOXQ1), mRNA. 135 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding p.S135L(1) lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) TCCGCGACTCGGCGGGCGGGC 0.687000 3 18 0 0 1 0 0 SMOC1 64093 broad.mit.edu 37 14 70477484 70477484 + Silent SNP G G A TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr14:70477484G>A uc001xlt.2 + 7 960 c.678G>A c.(676-678)tcG>tcA p.S226S SMOC1_uc001xls.2_Silent_p.S226S NM_001034852 NP_001030024 Q9H4F8 SMOC1_HUMAN Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA. 226 Thyroglobulin type-1 2. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) AAGTCTATTCGTGTGACCAGG 0.527000 4 122 0 0 1 0 0 DDX51 317781 broad.mit.edu 37 12 132626093 132626093 + Missense_Mutation SNP C C G TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr12:132626093C>G uc001ujy.4 - 6 1093 c.1054G>C c.(1054-1056)Gac>Cac p.D352H NOC4L_uc001ujz.1_5'Flank NM_175066 NP_778236 Q8N8A6 DDX51_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA. 352 Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) TCGATGTGGTCCACCAGGCGG 0.647000 3 38 0 0 1 0 0 TBC1D16 125058 broad.mit.edu 37 17 77926612 77926612 + Missense_Mutation SNP G G T TCGA-BJ-A0ZC-01A-12D-A13W-08 TCGA-BJ-A0ZC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae01da3a-78ad-4405-a24a-bcd786b4846b bbb6db00-380f-4352-b719-235d668bdd23 g.chr17:77926612G>T uc002jxj.3 - 3 901 c.785C>A c.(784-786)cCg>cAg p.P262Q TBC1D16_uc002jxh.3_5'Flank|TBC1D16_uc002jxi.3_5'Flank|TBC1D16_uc002jxk.1_5'Flank NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA. 262 Ser-rich. intracellular Rab GTPase activator activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) GGAGCTGGACGGGGGGCTGGT 0.657000 3 42 0 0 1 0 0