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 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 6 173 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr20:29614328G>A ENST00000278882.3 + 2 320 c.e2+1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATACGTTGGTGAGTCAGTT 0.289000 3 36 0 0 1 0 0 TSPAN32 10077 broad.mit.edu 37 11 2337870 2337870 + Missense_Mutation SNP G G A TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr11:2337870G>A ENST00000182290.4 + 8 829 c.692G>A c.(691-693)cGc>cAc p.R231H TSPAN32_ENST00000451520.2_Missense_Mutation_p.R220H|TSPAN32_ENST00000381121.3_Missense_Mutation_p.R231H NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 231 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) AGCTTGGACCGCAAGGGCAAA 0.667000 4 81 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1816225 1816225 + Missense_Mutation SNP T T C TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr4:1816225T>C ENST00000302787.2 - 14 2442 c.2146A>G c.(2146-2148)Aaa>Gaa p.K716E NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 716 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) ttctcctCTTTTTCCAGTGTT 0.542000 4 32 0 0 1 0 0 P2RY6 5031 broad.mit.edu 37 11 73008374 73008374 + Missense_Mutation SNP G G A TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr11:73008374G>A ENST00000393590.2 + 2 1110 c.811G>A c.(811-813)Gtc>Atc p.V271I P2RY6_ENST00000540342.1_Missense_Mutation_p.V271I|P2RY6_ENST00000542092.1_Missense_Mutation_p.V271I|P2RY6_ENST00000540124.1_Missense_Mutation_p.V271I|P2RY6_ENST00000538328.1_Missense_Mutation_p.V271I|P2RY6_ENST00000393592.2_Missense_Mutation_p.V271I|P2RY6_ENST00000393591.1_Missense_Mutation_p.V271I|P2RY6_ENST00000349767.2_Missense_Mutation_p.V271I NM_001277207.1|NM_001277208.1 NP_001264136.1|NP_001264137.1 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 6 271 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2) 14 GACGCCGGGCGTCCCCTGCAC 0.627000 5 79 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74968293 74968293 + Splice_Site SNP T T G TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr14:74968293T>G ENST00000261978.4 - 35 5557 c.5170_splice c.e35-1 p.E1724_splice LTBP2_ENST00000556690.1_Splice_Site_p.E1680_splice NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1724 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGCTGGGGGCTCTGGGAGGAG 0.647000 OREG0022805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 39 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39937137 39937137 + Missense_Mutation SNP T T G TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chrX:39937137T>G ENST00000342274.4 - 2 408 c.46A>C c.(46-48)Aac>Cac p.N16H BCOR_ENST00000378455.4_Missense_Mutation_p.N16H|BCOR_ENST00000397354.3_Missense_Mutation_p.N16H|BCOR_ENST00000378444.4_Missense_Mutation_p.N16H NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 16 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CTCTCGCTGTTCATCCAGCTG 0.592000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 37 16 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13341013 13341013 + Missense_Mutation SNP A A C TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr19:13341013A>C ENST00000360228.5 - 36 5410 c.5411T>G c.(5410-5412)cTc>cGc p.L1804R CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1805R NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1805 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGCGACAAAGAGATTCAGCAT 0.577000 12 19 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304896 102304896 + RNA SNP C C G rs145942024 by1000genomes TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr15:102304896C>G ENST00000561463.1 + 0 12942 GAAGACACTCCTGGAGGAGTC 0.562000 3 19 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42876661 42876661 + Missense_Mutation SNP C C T TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr13:42876661C>T ENST00000025301.2 + 8 3954 c.3779C>T c.(3778-3780)gCg>gTg p.A1260V NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1260 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TGCAATTTTGCGGGTGATCTG 0.368000 4 122 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713956 142713956 + RNA SNP G G A rs12161184 by1000genomes TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr1:142713956G>A ENST00000369381.2 - 0 649 AAGTTAAAGAGTAACCTGCAC 0.308000 3 32 0 0 1 0 0 ONECUT1 3175 broad.mit.edu 37 15 53081412 53081412 + Missense_Mutation SNP C C T TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr15:53081412C>T ENST00000305901.5 - 1 797 c.670G>A c.(670-672)Gcc>Acc p.A224T ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 224 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) CCGAGCATGGCCGGGTGGTGG 0.701000 7 74 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58257980 58257980 + Missense_Mutation SNP C C T rs17405746 TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr17:58257980C>T ENST00000300896.4 - 33 4761 c.4567G>A c.(4567-4569)Ggt>Agt p.G1523S USP32_ENST00000592339.1_Missense_Mutation_p.G1193S NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 1523 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TGGCCCCCACCCAGAATTCCT 0.443000 4 134 0 0 1 0 0 CCDC86 79080 broad.mit.edu 37 11 60615402 60615402 + Missense_Mutation SNP C C T TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr11:60615402C>T ENST00000227520.5 + 2 818 c.764C>T c.(763-765)tCc>tTc p.S255F RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_5'UTR NM_024098.3 NP_077003.1 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 255 interspecies interaction between organisms nucleus endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10 TTCAGATTCTCCCAGATGCTT 0.617000 15 192 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62596684 62596684 + Missense_Mutation SNP G G A rs149440176 TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr8:62596684G>A ENST00000541428.1 - 2 240 c.80C>T c.(79-81)aCg>aTg p.T27M ASPH_ENST00000517847.2_Missense_Mutation_p.T27M|ASPH_ENST00000517661.1_Missense_Mutation_p.T27M|ASPH_ENST00000445642.3_Missense_Mutation_p.T27M|ASPH_ENST00000379454.4_Missense_Mutation_p.T56M|ASPH_ENST00000379449.6_Missense_Mutation_p.T56M|ASPH_ENST00000356457.5_Missense_Mutation_p.T56M|ASPH_ENST00000522603.1_Missense_Mutation_p.T27M|ASPH_ENST00000517903.1_Missense_Mutation_p.T27M|ASPH_ENST00000517856.1_Missense_Mutation_p.T56M|ASPH_ENST00000389204.4_Missense_Mutation_p.T27M|ASPH_ENST00000522835.1_Missense_Mutation_p.T27M|ASPH_ENST00000518068.1_Missense_Mutation_p.T56M NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 56 Ser-rich. muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CATAAACCACGTGAAGAATGA 0.403000 9 113 0 0 1 0 0 STIM2 57620 broad.mit.edu 37 4 27024340 27024340 + Missense_Mutation SNP G G A TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr4:27024340G>A ENST00000382009.3 + 13 2515 c.2248G>A c.(2248-2250)Ggt>Agt p.G750S STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000465503.1_Missense_Mutation_p.G663S|STIM2_ENST00000237364.5_Missense_Mutation_p.G742S|STIM2_ENST00000467011.1_3'UTR|STIM2_ENST00000467087.1_Missense_Mutation_p.G655S NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 655 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) CGACTGTGTAGGTCTGACAGA 0.483000 4 120 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189582120 189582120 + Missense_Mutation SNP G G A TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr3:189582120G>A ENST00000264731.3 + 5 768 c.679G>A c.(679-681)Gcc>Acc p.A227T TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 227 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TGTTATCCGCGCCATGCCTGT 0.517000 HNSCC(45;0.13) 6 76 0 0 1 0 0 LINC00466 199899 broad.mit.edu 37 1 63728142 63728142 + RNA DEL C C - TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr1:63728142delC ENST00000455304.2 - 0 191 GGTTACTGATCCCAGGGCTGA 0.488 2 4 --- --- --- --- ZNF425 155054 broad.mit.edu 37 7 148802161 148802162 + Frame_Shift_Ins INS - - GA TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr7:148802161_148802162insGA ENST00000378061.2 - 4 933_934 c.801_802insTC c.(799-804)gtacacfs p.VH267fs NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 267 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGGCCGGTGTGGACAACCTGAT 0.619 17 67 --- --- --- --- HERC2P4 100289574 broad.mit.edu 37 16 32182027 32182028 + RNA INS - - T TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr16:32182027_32182028insT ENST00000564730.1 - 0 388_389 AGACCTCCTTGTAAGAACGGCC 0.391 3 3 --- --- --- ---