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 ENST00000265074.8 + 4 1414 c.1071T>C c.(1069-1071)ttT>ttC p.F357F NPR3_ENST00000415685.2_Silent_p.F141F|NPR3_ENST00000415167.2_Silent_p.F357F|NPR3_ENST00000434067.2_Silent_p.F141F NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 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 ENST00000216366.4 + 6 574 c.e6-1 AP4S1_ENST00000554345.1_Splice_Site|AP4S1_ENST00000542754.2_Intron|AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000334725.4_Splice_Site NM_007077.4 NP_009008.2 Q9Y587 AP4S1_HUMAN adaptor-related protein complex 4, sigma 1 subunit coated pit|Golgi apparatus 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 ENST00000409155.3 - 10 981 c.785G>T c.(784-786)cGg>cTg p.R262L ALAD_ENST00000277315.5_Missense_Mutation_p.R245L NM_000031.5 NP_000022.3 P13716 HEM2_HUMAN aminolevulinate dehydratase 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 1 1 1 1 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 ENST00000448775.2 - 2 500 c.160A>G c.(160-162)Acc>Gcc p.T54A NM_024769.2 NP_079045.1 Q9H6B4 CLMP_HUMAN CXADR-like membrane protein 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 ENST00000357033.4 - 49 7357 c.7151C>T c.(7150-7152)tCt>tTt p.S2384F DMD_ENST00000378677.2_Missense_Mutation_p.S2380F|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 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 ENST00000367696.2 - 10 1792 c.1441G>A c.(1441-1443)Ggt>Agt p.G481S RC3H1_ENST00000367694.2_Missense_Mutation_p.G481S|RC3H1_ENST00000258349.4_Missense_Mutation_p.G481S Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 481 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway 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 ST13 6767 broad.mit.edu 37 22 41231580 41231580 + 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.chr22:41231580G>A ENST00000216218.3 - 7 1043 c.562C>T c.(562-564)Cgg>Tgg p.R188W NM_003932.3 NP_003923.2 P50502 F10A1_HUMAN suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 188 protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 GCTTTCCCCCGCCACTTGTAA 0.358000 6 328 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 ENST00000369864.4 - 2 1054 c.705C>T c.(703-705)caC>caT p.H235H AMIGO1_ENST00000369862.1_Silent_p.H235H Q86WK6 AMGO1_HUMAN adhesion molecule with Ig-like domain 1 235 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 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 ENST00000355981.2 - 1 264 c.264T>A c.(262-264)gtT>gtA p.V88V NM_003546.2 NP_003537.1 P62805 H4_HUMAN histone cluster 1, H4l 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 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 ENST00000339613.2 + 5 605 c.350C>T c.(349-351)aCc>aTc p.T117I HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Missense_Mutation_p.T122I|HIF3A_ENST00000377670.4_Missense_Mutation_p.T173I|HIF3A_ENST00000300862.3_Missense_Mutation_p.T171I|HIF3A_ENST00000600383.1_Missense_Mutation_p.T104I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T104I|HIF3A_ENST00000472815.1_Missense_Mutation_p.T104I Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 173 PAS 1. 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 ENST00000449726.1 + 14 1762 c.1412C>T c.(1411-1413)aCc>aTc p.T471I PLEKHA8_ENST00000258679.7_Intron|PLEKHA8_ENST00000396257.2_Intron|PLEKHA8_ENST00000396259.1_Intron NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 471 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 ENST00000521268.1 + 7 1738 c.633C>G c.(631-633)gaC>gaG p.D211E RALYL_ENST00000523850.1_Missense_Mutation_p.D138E|RALYL_ENST00000517638.1_Missense_Mutation_p.D224E|RALYL_ENST00000522455.1_Missense_Mutation_p.D211E|RALYL_ENST00000521695.1_Missense_Mutation_p.D211E|RALYL_ENST00000518566.1_Missense_Mutation_p.D200E|RALYL_ENST00000521376.1_Missense_Mutation_p.D122E NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 211 identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 CTAAAATTGACTCCTTGCTAG 0.428000 2 14 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 ENST00000447110.1 - 5 434 c.310A>G c.(310-312)Aag>Gag p.K104E PIK3R5_ENST00000584803.1_Missense_Mutation_p.K104E|PIK3R5_ENST00000581552.1_Missense_Mutation_p.K104E NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 104 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 ENST00000309060.3 - 4 2351 c.1936A>C c.(1936-1938)Aga>Cga p.R646R ZHX3_ENST00000559234.1_Silent_p.R646R|ZHX3_ENST00000544979.2_Silent_p.R646R|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Silent_p.R646R|ZHX3_ENST00000540170.1_Silent_p.R646R|ZHX3_ENST00000560361.1_Silent_p.R646R Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 646 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 ENST00000257821.4 - 15 2099 c.1476C>T c.(1474-1476)tgC>tgT p.C492C PHF21A_ENST00000418153.2_Silent_p.C491C|PHF21A_ENST00000323180.6_Silent_p.C445C|PHF21A_ENST00000527753.1_5'UTR NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 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 ENST00000320203.4 + 5 942 c.360G>A c.(358-360)ctG>ctA p.L120L RBPMS_ENST00000519647.1_Silent_p.L16L|RBPMS_ENST00000397323.4_Silent_p.L120L|RBPMS_ENST00000339877.4_Silent_p.L120L|RBPMS_ENST00000287771.5_Silent_p.L120L|RBPMS_ENST00000520161.1_Silent_p.L16L|RBPMS_ENST00000517860.1_Silent_p.L120L|RBPMS_ENST00000538486.1_Silent_p.L120L|RBPMS_ENST00000520191.1_Silent_p.L16L NM_006867.2 NP_006858.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing 120 positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|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 ISM1 140862 broad.mit.edu 37 20 13279730 13279730 + 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.chr20:13279730G>A ENST00000262487.3 + 6 1025 c.1019G>A c.(1018-1020)cGc>cAc p.R340H TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 340 AMOP. extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 ATCTTCGACCGCATCAAGCGC 0.592000 3 28 0 0 1 0 0 TBC1D3P5 0 broad.mit.edu 37 17 25758368 25758368 + RNA 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.chr17:25758368G>T ENST00000586223.1 + 0 2802 NR_033892.1 ATAAGCACCCGAGATCCCAAA 0.453000 OREG0024258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 37 1 1 1 1 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 ENST00000394520.2 + 8 1620 c.1311C>G c.(1309-1311)ctC>ctG p.L437L RNF14_ENST00000394515.3_Silent_p.L261L|RNF14_ENST00000394514.2_Silent_p.L311L|RNF14_ENST00000540015.1_Silent_p.L134L|RNF14_ENST00000356143.1_Silent_p.L437L|RNF14_ENST00000347642.3_Silent_p.L437L|RNF14_ENST00000394519.1_Silent_p.L437L NM_001201365.1|NM_004290.4 NP_001188294.1|NP_004281.1 Q9UBS8 RNF14_HUMAN ring finger protein 14 437 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 ENST00000296839.2 + 1 670 c.405G>T c.(403-405)tcG>tcT p.S135S NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 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 caspase regulator activity|DNA bending 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 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 0.115264 0.13743 1 1 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 ENST00000381280.4 + 8 931 c.678G>A c.(676-678)tcG>tcA p.S226S SMOC1_ENST00000361956.3_Silent_p.S226S NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 226 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 ENST00000397333.3 - 7 1092 c.1054G>C c.(1054-1056)Gac>Cac p.D352H NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 352 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 ENST00000310924.2 - 4 900 c.785C>A c.(784-786)cCg>cAg p.P262Q NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 262 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 0.150653 0.172972 1 1 0 RP11-615J4.3 0 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 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.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 3 4 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142517140 142517140 + RNA DEL T T - rs71762044 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.chr8:142517140delT ENST00000430863.1 - 0 161 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TGGGGGGGGGTCAGGGGGTCC 0.657 7 19 --- --- --- --- PTCHD3P1 0 broad.mit.edu 37 10 29707318 29707320 + RNA DEL TAT TAT - 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.chr10:29707318_29707320delTAT ENST00000427063.2 + 0 143 PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000446807.1_RNA NR_003930.1 taaaatatgctattataacaact 0.300 2 4 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes 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.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 3 3 --- --- --- --- FKRP 79147 broad.mit.edu 37 19 47259363 47259364 + Frame_Shift_Ins INS - - 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.chr19:47259363_47259364insC ENST00000318584.5 + 4 953_954 c.656_657insC c.(655-657)gacfs p.D219fs FKRP_ENST00000391909.3_Frame_Shift_Ins_p.D219fs|FKRP_ENST00000600646.1_Intron NM_001039885.2|NM_024301.4 NP_001034974.1|NP_077277.1 Q9H9S5 FKRP_HUMAN fukutin related protein 219 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) CGGCCGGTGGGCACCAGCCTCT 0.762 2 4 --- --- --- ---