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 ROBO2 6092 broad.mit.edu 37 3 77693942 77693942 + Missense_Mutation SNP C C G TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr3:77693942C>G ENST00000461745.1 + 25 4922 c.4022C>G c.(4021-4023)aCt>aGt p.T1341S ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1341 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAGGGATCCACTGGACCTAGG 0.517000 5 62 0 0 0.014758 0 0 DNAJB5 25822 broad.mit.edu 37 9 34997172 34997172 + Silent SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr9:34997172C>T ENST00000541010.1 + 3 3975 c.963C>T c.(961-963)ctC>ctT p.L321L DNAJB5_ENST00000335998.3_Silent_p.L355L|DNAJB5_ENST00000454002.2_Silent_p.L393L|DNAJB5_ENST00000312316.5_Silent_p.L321L|DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000545841.1_Silent_p.L321L O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 321 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) GAGGAGACCTCATTGTTGAGT 0.547000 33 54 0 0 0.059317 0 0 UQCR10 29796 broad.mit.edu 37 22 30163414 30163414 + Silent SNP A A G rs17849991 TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr22:30163414A>G ENST00000330029.6 + 1 57 c.27A>G c.(25-27)aaA>aaG p.K9K UQCR10_ENST00000401406.3_Silent_p.K9K NM_001003684.1|NM_013387.3 NP_001003684.1|NP_037519.2 Q9UDW1 QCR9_HUMAN ubiquinol-cytochrome c reductase, complex III subunit X 9 mitochondrial electron transport, ubiquinol to cytochrome c mitochondrial inner membrane|respiratory chain ubiquinol-cytochrome-c reductase activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1) 5 TGACTTCGAAATTGTACTCCC 0.627000 5 25 0 0 0.029380 0 0 CA8 767 broad.mit.edu 37 8 61178528 61178528 + Missense_Mutation SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr8:61178528G>A ENST00000317995.4 - 3 637 c.373C>T c.(373-375)Cgt>Tgt p.R125C NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 125 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) TCAGAACCACGCTGGTTTTCT 0.383000 5 24 0 0 0.029380 0 0 CDX1 1044 broad.mit.edu 37 5 149562382 149562382 + Missense_Mutation SNP G G T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr5:149562382G>T ENST00000231656.8 + 2 579 c.497G>T c.(496-498)cGc>cTc p.R166L NM_001804.2 NP_001795.2 P47902 CDX1_HUMAN caudal type homeobox 1 166 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|lung(1)|ovary(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACCACCAACGCCTGGAGCTG 0.567000 58 127 3.21867e-24 5.00683e-24 0.048971 1 0 GP5 2814 broad.mit.edu 37 3 194118889 194118889 + Silent SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr3:194118889C>T ENST00000401815.1 - 1 194 c.123G>A c.(121-123)gcG>gcA p.A41A GP5_ENST00000323007.3_Silent_p.A41A P40197 GPV_HUMAN glycoprotein V (platelet) 41 LRRNT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) CGGAGATGCGCGCCACGTCGC 0.706000 13 28 0 0 0.020292 0 0 SLC16A12 387700 broad.mit.edu 37 10 91222287 91222287 + Missense_Mutation SNP A A C rs3740030 by1000genomes TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr10:91222287A>C ENST00000371790.4 - 3 349 c.49T>G c.(49-51)Tgg>Ggg p.W17G SLC16A12_ENST00000341233.4_5'UTR|RP11-168O10.6_ENST00000454270.1_RNA Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 0 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 TCCAACAGCCAAGTTATGATC 0.478000 2 11 0 0 0.004672 0 0 MTUS2 23281 broad.mit.edu 37 13 29600340 29600340 + Missense_Mutation SNP T T A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr13:29600340T>A ENST00000431530.3 + 1 1593 c.1535T>A c.(1534-1536)gTc>gAc p.V512D NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 502 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGCAAAGAGGTCACCACATCT 0.493000 6 19 0 0 0.021553 0 0 TTC6 319089 broad.mit.edu 37 14 38277950 38277950 + Missense_Mutation SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr14:38277950G>A ENST00000553443.1 + 24 4468 c.4468G>A c.(4468-4470)Gca>Aca p.A1490T TTC6_ENST00000382320.3_Missense_Mutation_p.A204T|TTC6_ENST00000476979.1_Missense_Mutation_p.A124T|TTC6_ENST00000267368.7_Missense_Mutation_p.A124T tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) TTATAAGCTAGCAATTACAGA 0.274000 29 58 0 0 0.037714 0 0 CDC5L 988 broad.mit.edu 37 6 44371735 44371735 + Missense_Mutation SNP A A T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr6:44371735A>T ENST00000371477.3 + 6 1028 c.729A>T c.(727-729)agA>agT p.R243S NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 243 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGAAATTAAGACAACAGGATC 0.398000 16 32 0 0 0.043863 0 0 TNP2 7142 broad.mit.edu 37 16 11363130 11363130 + Translation_Start_Site SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr16:11363130G>A ENST00000312693.3 - 0 59 RMI2_ENST00000572173.1_Intron NM_005425.4 NP_005416.1 Q05952 STP2_HUMAN transition protein 2 (during histone to protamine replacement) cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 AGGAGGCCACGTTTGGAGGGG 0.587000 4 44 0 0 0.009096 0 0 SCN4A 6329 broad.mit.edu 37 17 62022975 62022975 + Silent SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr17:62022975G>A ENST00000435607.1 - 19 3541 c.3465C>T c.(3463-3465)ggC>ggT p.G1155G SCN4A_ENST00000578147.1_Silent_p.G1155G NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1155 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AGGGGATGGCGCCTAGGAGGG 0.592000 25 120 0 0 0.091800 0 0 NPY1R 0 broad.mit.edu 37 4 164247226 164247226 + Missense_Mutation SNP C C A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr4:164247226C>A ENST00000296533.2 - 2 1012 c.481G>T c.(481-483)Gtg>Ttg p.V161L NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 161 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ACCCAAATCACAGCAATACCT 0.433000 13 25 7.03913e-09 1.01946e-08 0.093190 1 0 WWC3 55841 broad.mit.edu 37 X 10058810 10058810 + Splice_Site SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chrX:10058810G>A ENST00000380861.4 + 6 768 c.e6-1 WWC3_ENST00000454666.1_Splice_Site NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 GTTTTAACTAGGATTGATCGG 0.423000 9 13 0 0 0.047766 0 0 AIM2 9447 broad.mit.edu 37 1 159035790 159035790 + Silent SNP A A T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr1:159035790A>T ENST00000368130.4 - 4 1014 c.726T>A c.(724-726)atT>atA p.I242I AIM2_ENST00000481829.1_Intron NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 242 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) CTTTTCTGATAATGTTCAGCG 0.428000 10 58 0 0 0.069234 0 0 C1orf65 164127 broad.mit.edu 37 1 223566906 223566906 + Missense_Mutation SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr1:223566906G>A ENST00000366875.3 + 1 192 c.89G>A c.(88-90)cGg>cAg p.R30Q NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 30 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) TCCACGCAGCGGCTGGGCGGG 0.736000 4 10 0 0 0.014758 0 0 CORIN 10699 broad.mit.edu 37 4 47809012 47809012 + Missense_Mutation SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr4:47809012G>A ENST00000273857.4 - 2 115 c.116C>T c.(115-117)gCg>gTg p.A39V CORIN_ENST00000504584.1_Missense_Mutation_p.A39V|CORIN_ENST00000502252.1_Missense_Mutation_p.A39V|CORIN_ENST00000505909.1_Missense_Mutation_p.A39V NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 39 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GTTAGCAGTCGCCAGCTTCTG 0.453000 5 25 0 0 0.021553 0 0 POU3F4 5456 broad.mit.edu 37 X 82763400 82763400 + Missense_Mutation SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chrX:82763400C>T ENST00000373200.2 + 1 132 c.68C>T c.(67-69)gCg>gTg p.A23V RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298.2 P49335 PO3F4_HUMAN POU class 3 homeobox 4 23 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 GCGGACTCTGCGGGCATGCAG 0.557000 3 18 0 0 0.009096 0 0 RCHY1 25898 broad.mit.edu 37 4 76417113 76417113 + Missense_Mutation SNP G G T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr4:76417113G>T ENST00000324439.5 - 5 834 c.436C>A c.(436-438)Cca>Aca p.P146T RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T|RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T|RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T NM_001278536.1|NM_001278538.1|NM_001278539.1 NP_001265465.1|NP_001265467.1|NP_001265468.1 Q96PM5 ZN363_HUMAN ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase 146 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nuclear speck|ubiquitin ligase complex electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|pancreas(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AAACATATTGGACAATTCTGT 0.284000 12 35 1.33834e-09 2.00751e-09 0.043863 1 0 IL10RA 3587 broad.mit.edu 37 11 117864087 117864087 + Missense_Mutation SNP T T C TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr11:117864087T>C ENST00000227752.3 + 4 619 c.499T>C c.(499-501)Tat>Cat p.Y167H IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 167 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CTTCCGAGAGTATGAGATTGC 0.567000 3 55 0 0 0.004672 0 0 PDZD2 23037 broad.mit.edu 37 5 31983565 31983565 + Missense_Mutation SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr5:31983565G>A ENST00000438447.1 + 3 1169 c.781G>A c.(781-783)Ggc>Agc p.G261S PDZD2_ENST00000282493.3_Missense_Mutation_p.G261S O15018 PDZD2_HUMAN PDZ domain containing 2 261 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACTTGGAAACGGCCATGTCTT 0.557000 4 74 0 0 0.009096 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748253 19748253 + Missense_Mutation SNP A A T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr13:19748253A>T ENST00000400113.3 - 5 1207 c.1103T>A c.(1102-1104)cTg>cAg p.L368Q NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 368 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CACCTTGGCCAGGTCTCCCCC 0.582000 16 53 0 0 0.028581 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133949433 133949433 + Splice_Site SNP G G T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr10:133949433G>T ENST00000298622.4 + 5 1107 c.e5-1 NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) TTGTCTTTCAGTTGAAGCGCG 0.507000 3 12 0.004672 0.0065408 0.004672 1 0 CARD11 84433 broad.mit.edu 37 7 2984130 2984130 + Missense_Mutation SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr7:2984130C>T ENST00000396946.4 - 5 803 c.400G>A c.(400-402)Gag>Aag p.E134K AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 134 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTGATGACCTCGTTCATCAGG 0.602000 Mis DLBCL 12 39 0 0 0.080935 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 3 16 0 0 0.004672 0 0 HIST1H2AI 8329 broad.mit.edu 37 6 27776019 27776019 + Missense_Mutation SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr6:27776019C>T ENST00000358739.3 + 1 121 c.32C>T c.(31-33)gCt>gTt p.A11V NM_003509.2 NP_003500.1 histone cluster 1, H2ai lung(3) 3 GGAGGCAAAGCTCGCGCCAAG 0.547000 19 82 0 0 0.055883 0 0 NLRP10 338322 broad.mit.edu 37 11 7982637 7982637 + Silent SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr11:7982637C>T ENST00000328600.2 - 2 683 c.522G>A c.(520-522)tcG>tcA p.S174S NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 174 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAGTGCCAGCCGACCCCTGTA 0.542000 6 28 0 0 0.021553 0 0 ROBO2 6092 broad.mit.edu 37 3 77693942 77693942 + Missense_Mutation SNP C C G TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr3:77693942C>G ENST00000461745.1 + 25 4922 c.4022C>G c.(4021-4023)aCt>aGt p.T1341S ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1341 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAGGGATCCACTGGACCTAGG 0.517000 5 62 0 0 0.014758 0 0 DNAJB5 25822 broad.mit.edu 37 9 34997172 34997172 + Silent SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr9:34997172C>T ENST00000541010.1 + 3 3975 c.963C>T c.(961-963)ctC>ctT p.L321L DNAJB5_ENST00000454002.2_Silent_p.L393L|DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000545841.1_Silent_p.L321L|DNAJB5_ENST00000312316.5_Silent_p.L321L|DNAJB5_ENST00000335998.3_Silent_p.L355L O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 321 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) GAGGAGACCTCATTGTTGAGT 0.547000 33 54 0 0 0.059317 0 0 UQCR10 29796 broad.mit.edu 37 22 30163414 30163414 + Silent SNP A A G rs17849991 TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr22:30163414A>G ENST00000330029.6 + 1 57 c.27A>G c.(25-27)aaA>aaG p.K9K UQCR10_ENST00000401406.3_Silent_p.K9K NM_001003684.1|NM_013387.3 NP_001003684.1|NP_037519.2 Q9UDW1 QCR9_HUMAN ubiquinol-cytochrome c reductase, complex III subunit X 9 mitochondrial electron transport, ubiquinol to cytochrome c mitochondrial inner membrane|respiratory chain ubiquinol-cytochrome-c reductase activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1) 5 TGACTTCGAAATTGTACTCCC 0.627000 5 25 0 0 0.029380 0 0 CA8 767 broad.mit.edu 37 8 61178528 61178528 + Missense_Mutation SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr8:61178528G>A ENST00000317995.4 - 3 637 c.373C>T c.(373-375)Cgt>Tgt p.R125C NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 125 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) TCAGAACCACGCTGGTTTTCT 0.383000 5 24 0 0 0.029380 0 0 CDX1 1044 broad.mit.edu 37 5 149562382 149562382 + Missense_Mutation SNP G G T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr5:149562382G>T ENST00000231656.8 + 2 579 c.497G>T c.(496-498)cGc>cTc p.R166L NM_001804.2 NP_001795.2 P47902 CDX1_HUMAN caudal type homeobox 1 166 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|lung(1)|ovary(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACCACCAACGCCTGGAGCTG 0.567000 58 127 3.21867e-24 4.8835e-24 0.048971 1 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 45 0 0 0.009096 0 0 GP5 2814 broad.mit.edu 37 3 194118889 194118889 + Silent SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr3:194118889C>T ENST00000401815.1 - 1 194 c.123G>A c.(121-123)gcG>gcA p.A41A GP5_ENST00000323007.3_Silent_p.A41A P40197 GPV_HUMAN glycoprotein V (platelet) 41 LRRNT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) CGGAGATGCGCGCCACGTCGC 0.706000 13 28 0 0 0.020292 0 0 SLC16A12 387700 broad.mit.edu 37 10 91222287 91222287 + Missense_Mutation SNP A A C rs3740030 by1000genomes TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr10:91222287A>C ENST00000371790.4 - 3 349 c.49T>G c.(49-51)Tgg>Ggg p.W17G RP11-168O10.6_ENST00000454270.1_RNA|SLC16A12_ENST00000341233.4_5'UTR Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 0 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 TCCAACAGCCAAGTTATGATC 0.478000 2 11 0 0 0.004672 0 0 PCDHB7 0 broad.mit.edu 37 5 140553676 140553676 + Silent SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr5:140553676C>T ENST00000231137.3 + 1 1434 c.1260C>T c.(1258-1260)acC>acT p.T420T NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 420 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACATCACCATCACCGTCA 0.512000 4 70 0 0 0.021553 0 0 TTC6 319089 broad.mit.edu 37 14 38277950 38277950 + Missense_Mutation SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr14:38277950G>A ENST00000553443.1 + 24 4468 c.4468G>A c.(4468-4470)Gca>Aca p.A1490T TTC6_ENST00000476979.1_Missense_Mutation_p.A124T|TTC6_ENST00000267368.7_Missense_Mutation_p.A124T|TTC6_ENST00000382320.3_Missense_Mutation_p.A204T tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) TTATAAGCTAGCAATTACAGA 0.274000 29 58 0 0 0.037714 0 0 CDC5L 988 broad.mit.edu 37 6 44371735 44371735 + Missense_Mutation SNP A A T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr6:44371735A>T ENST00000371477.3 + 6 1028 c.729A>T c.(727-729)agA>agT p.R243S NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 243 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGAAATTAAGACAACAGGATC 0.398000 16 32 0 0 0.043863 0 0 TNP2 7142 broad.mit.edu 37 16 11363130 11363130 + Translation_Start_Site SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr16:11363130G>A ENST00000312693.3 - 0 59 RMI2_ENST00000572173.1_Intron NM_005425.4 NP_005416.1 Q05952 STP2_HUMAN transition protein 2 (during histone to protamine replacement) cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 AGGAGGCCACGTTTGGAGGGG 0.587000 4 44 0 0 0.009096 0 0 SCN4A 6329 broad.mit.edu 37 17 62022975 62022975 + Silent SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr17:62022975G>A ENST00000578147.1 - 19 3541 c.3465C>T c.(3463-3465)ggC>ggT p.G1155G SCN4A_ENST00000435607.1_Silent_p.G1155G P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1155 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AGGGGATGGCGCCTAGGAGGG 0.592000 25 120 0 0 0.091800 0 0 NPY1R 0 broad.mit.edu 37 4 164247226 164247226 + Missense_Mutation SNP C C A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr4:164247226C>A ENST00000296533.2 - 2 1012 c.481G>T c.(481-483)Gtg>Ttg p.V161L NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 161 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ACCCAAATCACAGCAATACCT 0.433000 13 25 7.03913e-09 9.99102e-09 0.093190 1 0 WWC3 55841 broad.mit.edu 37 X 10058810 10058810 + Splice_Site SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chrX:10058810G>A ENST00000380861.4 + 6 768 c.e6-1 WWC3_ENST00000454666.1_Splice_Site NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 GTTTTAACTAGGATTGATCGG 0.423000 9 13 0 0 0.047766 0 0 AIM2 9447 broad.mit.edu 37 1 159035790 159035790 + Silent SNP A A T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr1:159035790A>T ENST00000368130.4 - 4 1014 c.726T>A c.(724-726)atT>atA p.I242I AIM2_ENST00000481829.1_Intron NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 242 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) CTTTTCTGATAATGTTCAGCG 0.428000 10 58 0 0 0.069234 0 0 C1orf65 164127 broad.mit.edu 37 1 223566906 223566906 + Missense_Mutation SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr1:223566906G>A ENST00000366875.3 + 1 192 c.89G>A c.(88-90)cGg>cAg p.R30Q NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 30 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) TCCACGCAGCGGCTGGGCGGG 0.736000 4 10 0 0 0.014758 0 0 CORIN 10699 broad.mit.edu 37 4 47809012 47809012 + Missense_Mutation SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr4:47809012G>A ENST00000273857.4 - 2 115 c.116C>T c.(115-117)gCg>gTg p.A39V CORIN_ENST00000505909.1_Missense_Mutation_p.A39V|CORIN_ENST00000504584.1_Missense_Mutation_p.A39V|CORIN_ENST00000502252.1_Missense_Mutation_p.A39V NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 39 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GTTAGCAGTCGCCAGCTTCTG 0.453000 5 25 0 0 0.021553 0 0 POU3F4 5456 broad.mit.edu 37 X 82763400 82763400 + Missense_Mutation SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chrX:82763400C>T ENST00000373200.2 + 1 132 c.68C>T c.(67-69)gCg>gTg p.A23V RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298.2 P49335 PO3F4_HUMAN POU class 3 homeobox 4 23 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 GCGGACTCTGCGGGCATGCAG 0.557000 3 18 0 0 0.009096 0 0 RCHY1 25898 broad.mit.edu 37 4 76417113 76417113 + Missense_Mutation SNP G G T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr4:76417113G>T ENST00000324439.5 - 5 834 c.436C>A c.(436-438)Cca>Aca p.P146T RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T|RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T|RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T NM_001278536.1|NM_001278538.1|NM_001278539.1 NP_001265465.1|NP_001265467.1|NP_001265468.1 Q96PM5 ZN363_HUMAN ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase 146 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nuclear speck|ubiquitin ligase complex electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|pancreas(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AAACATATTGGACAATTCTGT 0.284000 12 35 1.33834e-09 1.96289e-09 0.043863 1 0 PDZD2 23037 broad.mit.edu 37 5 31983565 31983565 + Missense_Mutation SNP G G A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr5:31983565G>A ENST00000438447.1 + 3 1169 c.781G>A c.(781-783)Ggc>Agc p.G261S PDZD2_ENST00000282493.3_Missense_Mutation_p.G261S O15018 PDZD2_HUMAN PDZ domain containing 2 261 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACTTGGAAACGGCCATGTCTT 0.557000 4 74 0 0 0.009096 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748253 19748253 + Missense_Mutation SNP A A T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr13:19748253A>T ENST00000400113.3 - 5 1207 c.1103T>A c.(1102-1104)cTg>cAg p.L368Q NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 368 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CACCTTGGCCAGGTCTCCCCC 0.582000 16 53 0 0 0.028581 0 0 MTUS2 23281 broad.mit.edu 37 13 29600340 29600340 + Missense_Mutation SNP T T A TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr13:29600340T>A ENST00000431530.3 + 1 1593 c.1535T>A c.(1534-1536)gTc>gAc p.V512D NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 502 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGCAAAGAGGTCACCACATCT 0.493000 6 19 0 0 0.021553 0 0 IL10RA 3587 broad.mit.edu 37 11 117864087 117864087 + Missense_Mutation SNP T T C TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr11:117864087T>C ENST00000227752.3 + 4 619 c.499T>C c.(499-501)Tat>Cat p.Y167H IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H|IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 167 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CTTCCGAGAGTATGAGATTGC 0.567000 3 55 0 0 0.004672 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133949433 133949433 + Splice_Site SNP G G T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr10:133949433G>T ENST00000298622.4 + 5 1107 c.e5-1 NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) TTGTCTTTCAGTTGAAGCGCG 0.507000 3 12 0.004672 0.006424 0.004672 1 0 CARD11 84433 broad.mit.edu 37 7 2984130 2984130 + Missense_Mutation SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr7:2984130C>T ENST00000396946.4 - 5 803 c.400G>A c.(400-402)Gag>Aag p.E134K AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 134 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTGATGACCTCGTTCATCAGG 0.602000 Mis DLBCL 12 39 0 0 0.080935 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 3 16 0 0 0.004672 0 0 HIST1H2AI 8329 broad.mit.edu 37 6 27776019 27776019 + Missense_Mutation SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr6:27776019C>T ENST00000358739.3 + 1 121 c.32C>T c.(31-33)gCt>gTt p.A11V NM_003509.2 NP_003500.1 histone cluster 1, H2ai lung(3) 3 GGAGGCAAAGCTCGCGCCAAG 0.547000 19 82 0 0 0.055883 0 0 NLRP10 338322 broad.mit.edu 37 11 7982637 7982637 + Silent SNP C C T TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr11:7982637C>T ENST00000328600.2 - 2 683 c.522G>A c.(520-522)tcG>tcA p.S174S NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 174 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAGTGCCAGCCGACCCCTGTA 0.542000 6 28 0 0 0.021553 0 0 POGZ 23126 broad.mit.edu 37 1 151377502 151377515 + Frame_Shift_Del DEL TAATGTTGCCATCG TAATGTTGCCATCG - TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr1:151377502_151377515delTAATGTTGCCATCG ENST00000271715.2 - 19 4310_4323 c.3996_4009delCGATGGCAACATTA c.(3994-4011)ccacfs p.PDGNIN1332fs POGZ_ENST00000368863.2_Frame_Shift_Del_p.PDGNIN1237fs|POGZ_ENST00000540984.1_Frame_Shift_Del_p.PDGNIN694fs|POGZ_ENST00000531094.1_Frame_Shift_Del_p.PDGNIN1270fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.PDGNIN1288fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.PDGNIN1323fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.PDGNIN1279fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.PDGNIN1279fs NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 1332 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCA 0.542 OREG0003905 type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 35 --- --- --- --- YWHAQ 10971 broad.mit.edu 37 2 9731521 9731522 + Splice_Site INS - - TT TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr2:9731521_9731522insTT ENST00000381844.4 - 2 580_581 c.418_splice c.e2+1 p.N140_splice YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Splice_Site_p.N140_splice P27348 1433T_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 140 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) ATAAACTTACGTTTTCGATCAT 0.381 18 50 --- --- --- --- IRF4 3662 broad.mit.edu 37 6 397161 397161 + Frame_Shift_Del DEL C C - TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr6:397161delC ENST00000380956.4 + 5 672 c.546delC c.(544-546)gtfs p.V182fs IRF4_ENST00000495137.1_3'UTR NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 182 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GGGACTACGTCCCGGATCAGC 0.567 T IGH@ MM 25 119 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206177 13206177 + Frame_Shift_Del DEL G G - TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr6:13206177delG ENST00000379350.1 + 7 924 c.795delG c.(793-795)aafs p.K265fs PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs|PHACTR1_ENST00000379345.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 265 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) CAGCCCAGAAGAGTGGCCAGC 0.627 18 58 --- --- --- --- DNAH11 8701 broad.mit.edu 37 7 21882351 21882351 + Frame_Shift_Del DEL T T - TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 92b13aa2-eb12-433b-a744-c6f7d1d1e690 g.chr7:21882351delT ENST00000328843.6 + 67 10933 c.10902delT c.(10900-10902)gafs p.D3634fs DNAH11_ENST00000409508.3_Frame_Shift_Del_p.D3627fs Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3634 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AAAGGCCAGATTTGGAGAAAC 0.423 Kartagener syndrome 2 4 --- --- --- --- POGZ 23126 broad.mit.edu 37 1 151377502 151377515 + Frame_Shift_Del DEL TAATGTTGCCATCG TAATGTTGCCATCG - TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr1:151377502_151377515delTAATGTTGCCATCG ENST00000271715.2 - 19 4310_4323 c.3996_4009delCGATGGCAACATTA c.(3994-4011)ccacfs p.PDGNIN1332fs POGZ_ENST00000409503.1_Frame_Shift_Del_p.PDGNIN1323fs|POGZ_ENST00000540984.1_Frame_Shift_Del_p.PDGNIN694fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.PDGNIN1279fs|POGZ_ENST00000531094.1_Frame_Shift_Del_p.PDGNIN1270fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.PDGNIN1288fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.PDGNIN1237fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.PDGNIN1279fs NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 1332 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCA 0.542 OREG0003905 type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 35 --- --- --- --- YWHAQ 10971 broad.mit.edu 37 2 9731521 9731522 + Splice_Site INS - - TT TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr2:9731521_9731522insTT ENST00000381844.4 - 2 580_581 c.418_splice c.e2+1 p.N140_splice YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Splice_Site_p.N140_splice P27348 1433T_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 140 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) ATAAACTTACGTTTTCGATCAT 0.381 18 50 --- --- --- --- IRF4 3662 broad.mit.edu 37 6 397161 397161 + Frame_Shift_Del DEL C C - TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr6:397161delC ENST00000380956.4 + 5 672 c.546delC c.(544-546)gtfs p.V182fs IRF4_ENST00000495137.1_3'UTR NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 182 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GGGACTACGTCCCGGATCAGC 0.567 T IGH@ MM 25 119 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206177 13206177 + Frame_Shift_Del DEL G G - TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr6:13206177delG ENST00000379350.1 + 7 924 c.795delG c.(793-795)aafs p.K265fs PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 265 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) CAGCCCAGAAGAGTGGCCAGC 0.627 18 58 --- --- --- --- DNAH11 8701 broad.mit.edu 37 7 21882351 21882351 + Frame_Shift_Del DEL T T - TCGA-EJ-7327-01A-11D-2114-08 TCGA-EJ-7327-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 496d38bb-e8f5-491c-943c-01739cc4a0e8 63935545-e28d-4a83-8cfa-8ca0fee47da7 g.chr7:21882351delT ENST00000328843.6 + 67 10933 c.10902delT c.(10900-10902)gafs p.D3634fs DNAH11_ENST00000409508.3_Frame_Shift_Del_p.D3627fs Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3634 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AAAGGCCAGATTTGGAGAAAC 0.423 Kartagener syndrome 2 4 --- --- --- ---