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 INO80B 83444 broad.mit.edu 37 2 74682565 74682565 + Missense_Mutation SNP C C T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr2:74682565C>T ENST00000233331.7 + 2 185 c.91C>T c.(91-93)Cat>Tat p.H31Y INO80B_ENST00000469849.1_Intron|INO80B_ENST00000409917.1_Missense_Mutation_p.H31Y NM_031288.3 NP_112578.2 Q9C086 IN80B_HUMAN INO80 complex subunit B 31 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|nucleolus metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 13 GGCGGGTGCCCATGGCCATGG 0.567000 16 42 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42058595 42058595 + Missense_Mutation SNP A A C TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr15:42058595A>C ENST00000219905.7 + 24 8496 c.8315A>C c.(8314-8316)gAt>gCt p.D2772A MGA_ENST00000389936.4_Missense_Mutation_p.D2733A|MGA_ENST00000570161.1_Missense_Mutation_p.D2772A|MGA_ENST00000566586.1_Missense_Mutation_p.D2563A|MGA_ENST00000545763.1_Missense_Mutation_p.D2563A NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2733 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AAGTCAAAGGATTCTTCATTT 0.378000 3 12 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43161344 43161344 + Missense_Mutation SNP C C T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr21:43161344C>T ENST00000352483.2 - 9 2217 c.2153G>A c.(2152-2154)gGc>gAc p.G718D RIPK4_ENST00000544709.1_Missense_Mutation_p.G607D|RIPK4_ENST00000332512.3_Missense_Mutation_p.G670D|RIPK4_ENST00000542057.1_Missense_Mutation_p.G607D|AP001615.9_ENST00000423276.1_RNA Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 670 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AGCGGTGTAGCCGTCTGAGGT 0.682000 20 45 0 0 1 0 0 INPP4B 8821 broad.mit.edu 37 4 143326450 143326450 + Missense_Mutation SNP C C T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr4:143326450C>T ENST00000513000.1 - 7 597 c.164G>A c.(163-165)cGt>cAt p.R55H INPP4B_ENST00000509777.1_Missense_Mutation_p.R55H|INPP4B_ENST00000506217.1_Missense_Mutation_p.R55H|INPP4B_ENST00000308502.4_Missense_Mutation_p.R55H|INPP4B_ENST00000508116.1_Missense_Mutation_p.R55H|INPP4B_ENST00000262992.4_Missense_Mutation_p.R55H NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 55 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TTTACGATCACGGACAGGAGC 0.517000 12 17 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55118674 55118674 + Silent SNP G G A TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr1:55118674G>A ENST00000414150.2 + 3 353 c.75G>A c.(73-75)ggG>ggA p.G25G MROH7_ENST00000339553.5_Silent_p.G25G|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000421030.2_Silent_p.G25G|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Silent_p.G25G maestro heat-like repeat family member 7 CCTCCTGTGGGGCCCCGGGAT 0.592000 22 15 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18025715 18025715 + Missense_Mutation SNP C C T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr17:18025715C>T ENST00000205890.5 + 2 3939 c.3601C>T c.(3601-3603)Cgg>Tgg p.R1201W NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1201 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCCAAGCTGGCGGAACAAGGT 0.632000 11 22 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136882674 136882674 + Silent SNP G G A TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr6:136882674G>A ENST00000359015.4 - 28 4344 c.3984C>T c.(3982-3984)agC>agT p.S1328S MAP3K5_ENST00000355845.4_Silent_p.S575S NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 1328 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TCTTTACCCGGCTTATAGTGT 0.433000 3 48 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95694120 95694120 + Missense_Mutation SNP G G A TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr12:95694120G>A ENST00000436874.1 + 12 2116 c.2011G>A c.(2011-2013)Ggt>Agt p.G671S VEZT_ENST00000261219.6_Missense_Mutation_p.G623S|VEZT_ENST00000356859.4_3'UTR NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 671 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 CTCTCTAGAAGGTAAAAATAA 0.353000 6 8 0 0 1 0 0 C14orf105 55195 broad.mit.edu 37 14 57960220 57960220 + Missense_Mutation SNP A A G TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr14:57960220A>G ENST00000216445.3 - 1 350 c.214T>C c.(214-216)Tat>Cat p.Y72H C14orf105_ENST00000534126.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000526336.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000422976.2_Missense_Mutation_p.Y72H NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 72 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 CCTGTAGAATATCTTCCATAC 0.408000 26 32 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79581312 79581312 + Missense_Mutation SNP T T C TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr10:79581312T>C ENST00000372391.2 - 15 2935 c.2930A>G c.(2929-2931)aAc>aGc p.N977S DLG5_ENST00000372388.2_Intron NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 977 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TTTGAAAGTGTTAGGGTCAAA 0.577000 11 57 0 0 1 0 0 MSRB3 253827 broad.mit.edu 37 12 65847524 65847524 + Silent SNP C C T rs140600679 TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr12:65847524C>T ENST00000308259.5 + 6 583 c.309C>T c.(307-309)caC>caT p.H103H MSRB3_ENST00000535664.1_Silent_p.H103H|MSRB3_ENST00000540804.1_Silent_p.H110H|MSRB3_ENST00000355192.3_Silent_p.H110H NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 110 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) CTTCATTCCACGATGTGATCA 0.448000 20 24 0 0 1 0 0 RP11-1166P10.8 0 broad.mit.edu 37 16 32163807 32163807 + RNA SNP G G A TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr16:32163807G>A ENST00000564145.1 - 0 27 GTGGGTGATGGAGCGGAGCTG 0.527000 9 19 0 0 1 0 0 TET2 54790 broad.mit.edu 37 4 106157155 106157155 + Nonsense_Mutation SNP A A T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr4:106157155A>T ENST00000513237.1 + 3 2916 c.2119A>T c.(2119-2121)Aga>Tga p.R707* TET2_ENST00000380013.4_Nonsense_Mutation_p.R686*|TET2_ENST00000305737.2_Nonsense_Mutation_p.R686*|TET2_ENST00000394764.1_Nonsense_Mutation_p.R686*|TET2_ENST00000413648.2_Nonsense_Mutation_p.R686*|TET2_ENST00000545826.1_Nonsense_Mutation_p.R686*|TET2_ENST00000540549.1_Nonsense_Mutation_p.R686* Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 686 Gln-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.F683fs*17(1)|p.R686fs*7(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TTTTCAACAAAGAGCAGATTC 0.423000 """Mis N, F""" MDS 28 45 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 18 30 0 0 1 0 0 GFPT1 2673 broad.mit.edu 37 2 69554140 69554140 + Missense_Mutation SNP T T C TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr2:69554140T>C ENST00000357308.4 - 19 2139 c.1961A>G c.(1960-1962)aAg>aGg p.K654R GFPT1_ENST00000361060.4_Missense_Mutation_p.K636R NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 654 SIS 2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 GTGGGGCACCTTGATCGTTCT 0.473000 21 57 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109526915 109526915 + Splice_Site SNP C C G TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr2:109526915C>G ENST00000409271.1 - 9 1343 c.e9+1 EDAR_ENST00000258443.2_Splice_Site|EDAR_ENST00000376651.1_Splice_Site Q9UNE0 EDAR_HUMAN ectodysplasin A receptor apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CTTCCACATACCTCTTGGTGG 0.577000 10 7 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974112 49974112 + Silent SNP C C T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr11:49974112C>T ENST00000555099.1 + 1 170 c.138C>T c.(136-138)acC>acT p.T46T NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 TTGTGGTCACCATCACTGCCA 0.438000 49 85 0 0 1 0 0 ZNF652 22834 broad.mit.edu 37 17 47394244 47394244 + Missense_Mutation SNP C C T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr17:47394244C>T ENST00000362063.2 - 2 1162 c.844G>A c.(844-846)Gtc>Atc p.V282I ZNF652_ENST00000430262.2_Missense_Mutation_p.V282I NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) CTTTCCAGGACAAACTTCTTG 0.453000 24 50 0 0 1 0 0 THUMPD2 80745 broad.mit.edu 37 2 39997066 39997066 + Missense_Mutation SNP C C T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr2:39997066C>T ENST00000505747.1 - 3 483 c.456G>A c.(454-456)atG>atA p.M152I THUMPD2_ENST00000454352.2_Missense_Mutation_p.M122I|THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000260619.6_Missense_Mutation_p.M122I NM_025264.4 NP_079540.2 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 152 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) CTATCTTTTGCATTTGTTCTA 0.318000 10 22 0 0 1 0 0 SPDYE1 285955 broad.mit.edu 37 7 44046924 44046924 + Missense_Mutation SNP C C A TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr7:44046924C>A ENST00000258704.3 + 5 827 c.690C>A c.(688-690)caC>caA p.H230Q AC004951.6_ENST00000447643.1_RNA|POLR2J4_ENST00000427076.1_RNA NM_001099435.2|NM_175064.2 NP_001092905.2|NP_778234.2 Q8NFV5 SPDE1_HUMAN speedy/RINGO cell cycle regulator family member E1 230 endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 11 ACATCTTCCACTTCCTGTATG 0.557000 57 84 1.45723e-30 1.58581e-30 1 1 0 OSR2 116039 broad.mit.edu 37 8 99961351 99961351 + Silent SNP G G A TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr8:99961351G>A ENST00000297565.4 + 2 667 c.171G>A c.(169-171)ggG>ggA p.G57G OSR2_ENST00000457907.2_Silent_p.G178G|OSR2_ENST00000522510.1_Silent_p.G57G|OSR2_ENST00000523368.1_Silent_p.G57G|OSR2_ENST00000435298.2_Silent_p.G57G NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 57 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) GGACGCTGGGGTATCCCAATG 0.657000 18 29 0 0 1 0 0 B3GALT1 8708 broad.mit.edu 37 2 168725943 168725943 + Missense_Mutation SNP C C G TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr2:168725943C>G ENST00000305861.1 + 2 745 c.394C>G c.(394-396)Caa>Gaa p.Q132E B3GALT1_ENST00000392690.2_Missense_Mutation_p.Q132E|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 132 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 GATGGTGGAGCAAGAGAGCCA 0.478000 20 31 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37035867 37035867 + Missense_Mutation SNP C C T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr2:37035867C>T ENST00000379242.3 + 15 1944 c.1642C>T c.(1642-1644)Cgc>Tgc p.R548C VIT_ENST00000401530.1_Missense_Mutation_p.R512C|VIT_ENST00000497382.1_Missense_Mutation_p.R202C|VIT_ENST00000404084.1_Missense_Mutation_p.R485C|VIT_ENST00000389975.3_Missense_Mutation_p.R533C|VIT_ENST00000379241.3_Missense_Mutation_p.R511C NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 533 VWFA 2. proteinaceous extracellular matrix p.R548S(1) autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) CACGGACACGCGCATCGGGGC 0.587000 19 20 0 0 1 0 0 ZNF350 59348 broad.mit.edu 37 19 52468457 52468457 + Silent SNP G G A TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr19:52468457G>A ENST00000243644.4 - 5 1476 c.1249C>T c.(1249-1251)Ctg>Ttg p.L417L HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA NM_021632.3 NP_067645.3 Q9GZX5 ZN350_HUMAN zinc finger protein 350 417 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) TGCTTAACCAGACACGACATA 0.468000 18 13 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190878646 190878646 + Nonsense_Mutation SNP G G T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr4:190878646G>T ENST00000226798.4 + 6 748 c.526G>T c.(526-528)Gaa>Taa p.E176* FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 176 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus p.E176*(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGGAGAAGAAGAAATGATCAA 0.373000 3 29 1 1 1 1 0 FAM47B 170062 broad.mit.edu 37 X 34962775 34962775 + Missense_Mutation SNP G G C TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chrX:34962775G>C ENST00000329357.5 + 1 1863 c.1827G>C c.(1825-1827)aaG>aaC p.K609N NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 609 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TCATTGAAAAGCTGTTTGCCA 0.438000 49 86 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073351 17073351 + Silent SNP C C T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr22:17073351C>T ENST00000359963.3 - 1 349 c.90G>A c.(88-90)gaG>gaA p.E30E NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 30 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GCAGGTGGGGCTCCTCCTCTT 0.657000 14 22 0 0 1 0 0 FAM111A 63901 broad.mit.edu 37 11 58919526 58919526 + Missense_Mutation SNP C C T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr11:58919526C>T ENST00000528737.1 + 5 3203 c.385C>T c.(385-387)Cgt>Tgt p.R129C FAM111A_ENST00000533703.1_Missense_Mutation_p.R129C|FAM111A_ENST00000531147.1_Missense_Mutation_p.R129C|FAM111A_ENST00000420244.1_Missense_Mutation_p.R129C|FAM111A_ENST00000361723.3_Missense_Mutation_p.R129C Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 129 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) AATGCTTGTGCGTGGCACAGA 0.443000 17 31 0 0 1 0 0 OR1S2 219958 broad.mit.edu 37 11 57971059 57971059 + Missense_Mutation SNP T T C TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr11:57971059T>C ENST00000302592.6 - 1 594 c.595A>G c.(595-597)Aaa>Gaa p.K199E NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) CAGGACAGTTTGAGCAGAGGG 0.413000 33 75 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47537946 47537946 + Missense_Mutation SNP A A G TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr4:47537946A>G ENST00000273859.3 + 7 1180 c.911A>G c.(910-912)aAc>aGc p.N304S ATP10D_ENST00000504445.1_Missense_Mutation_p.N304S NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 304 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.N304T(1) NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 ATGCTGAACAACAGTGGGCCA 0.408000 11 37 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52668651 52668651 + Silent SNP G G A TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr15:52668651G>A ENST00000399231.3 - 19 2556 c.2313C>T c.(2311-2313)atC>atT p.I771I MYO5A_ENST00000399233.2_Silent_p.I771I|MYO5A_ENST00000358212.6_Silent_p.I771I|MYO5A_ENST00000553916.1_Silent_p.I771I|MYO5A_ENST00000356338.6_Silent_p.I771I NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 771 IQ 1. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TCTGGATCCGGATGCAGGCAG 0.517000 12 32 0 0 1 0 0 STX16 8675 broad.mit.edu 37 20 57251288 57251288 + Missense_Mutation SNP A A G TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr20:57251288A>G ENST00000371141.4 + 9 1643 c.919A>G c.(919-921)Ata>Gta p.I307V STX16_ENST00000355957.5_Missense_Mutation_p.I290V|STX16_ENST00000358029.4_Missense_Mutation_p.I303V|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000359617.4_Missense_Mutation_p.I254V|STX16_ENST00000361770.5_Missense_Mutation_p.I290V|STX16_ENST00000361830.3_Missense_Mutation_p.I307V|STX16_ENST00000371132.4_Missense_Mutation_p.I286V NM_001001433.2 NP_001001433.1 O14662 STX16_HUMAN syntaxin 16 307 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1) 17 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) TGTGATTTTAATATTATTTGT 0.433000 17 42 0 0 1 0 0 SSU72 29101 broad.mit.edu 37 1 1509924 1509924 + Frame_Shift_Del DEL G G - TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr1:1509924delG ENST00000359060.4 - 1 40 c.14delC c.(13-15)cgfs p.P5fs SSU72_ENST00000291386.3_Frame_Shift_Del_p.P5fs Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 5 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CACCCGCAGCGGGGACGACGG 0.701 2 4 --- --- --- --- KDM1A 23028 broad.mit.edu 37 1 23356963 23356964 + Splice_Site INS - - A TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr1:23356963_23356964insA ENST00000400181.4 + 2 457_458 c.351_splice c.e2-1 p.G118_splice RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Splice_Site_p.G118_splice|KDM1A_ENST00000356634.3_Splice_Site_p.G118_splice NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 118 blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TCCATATAGGTAGAGTACAGAG 0.386 9 8 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708697 180708698 + RNA INS - - A rs1815381 TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr5:180708697_180708698insA ENST00000412295.2 + 0 238 ggggcggtaggcgggggctgga 0.718 2 4 --- --- --- --- UHRF1 29128 broad.mit.edu 37 19 4960949 4960949 + RNA DEL T T - rs147409935 TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr19:4960949delT ENST00000592666.1 + 0 3092 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) TTTGTCTTCCttttttttttt 0.343 4 3 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42798120 42798121 + Frame_Shift_Ins INS - - T TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr19:42798120_42798121insT ENST00000572681.2 + 18 6860_6861 c.6792_6793insT c.(6790-6795)cgttgcfs p.C2265fs CIC_ENST00000160740.3_Frame_Shift_Ins_p.C1357fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.C1359fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TCGAAGAGCGCTTTGCTGAGTT 0.663 """Mis, F, S""" oligodendroglioma 34 22 --- --- --- --- ASXL1 171023 broad.mit.edu 37 20 31022401 31022402 + Frame_Shift_Del DEL GT GT - TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 043d7b5e-441a-41a1-a59a-4057e486b5e1 b593c768-61c5-483e-a22d-94af00406293 g.chr20:31022401_31022402delGT ENST00000375687.4 + 13 2310_2311 c.1886_1887delGT c.(1885-1887)gfs p.G629fs ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G624fs NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 629 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 GGGGCGAGAGGTCACCACTGCC 0.698 """F, N, Mis""" """MDS, CMML""" 10 11 --- --- --- ---