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 ZBTB45 84878 broad.mit.edu 37 19 59028510 59028510 + Silent SNP C C T TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr19:59028510C>T ENST00000594051.1 - 2 1011 c.531G>A c.(529-531)gcG>gcA p.A177A ZBTB45_ENST00000354590.3_Silent_p.A177A|ZBTB45_ENST00000600990.1_Silent_p.A177A Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 177 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) GCTGCAAACGCGCGGGCTGGC 0.711000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 24 0 0 1 0 0 LHX2 9355 broad.mit.edu 37 9 126777629 126777629 + Silent SNP C C T TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr9:126777629C>T ENST00000373615.4 + 3 1291 c.552C>T c.(550-552)gcC>gcT p.A184A NM_004789.3 NP_004780.3 P50458 LHX2_HUMAN LIM homeobox 2 184 nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1) 10 TCAACCATGCCGACGTGGCAG 0.692000 13 22 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23411556 23411556 + Missense_Mutation SNP G G A TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chrX:23411556G>A ENST00000379361.4 + 3 2781 c.1921G>A c.(1921-1923)Gat>Aat p.D641N NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 641 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 TGATGAGGTCGATGTAGTGGC 0.403000 17 50 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 61 0 0 1 0 0 PET112 5188 broad.mit.edu 37 4 152682113 152682113 + Missense_Mutation SNP A A T TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr4:152682113A>T ENST00000263985.6 - 1 62 c.22T>A c.(22-24)Tgg>Agg p.W8R PET112_ENST00000512306.1_Missense_Mutation_p.W8R|PET112_ENST00000508611.1_Missense_Mutation_p.W8R|PET112_ENST00000515812.1_Missense_Mutation_p.W8R NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 8 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CGGCAGCCCCAGCGCAGCATG 0.622000 12 24 0 0 1 0 0 ANKLE2 23141 broad.mit.edu 37 12 133324458 133324458 + Missense_Mutation SNP C C T TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr12:133324458C>T ENST00000539605.1 - 4 7688 c.1004G>A c.(1003-1005)cGt>cAt p.R335H ANKLE2_ENST00000337516.5_Missense_Mutation_p.R397H|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R397H Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 397 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) CACCACGTAACGGATACGCTT 0.527000 11 27 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67023790 67023790 + Silent SNP C C T TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr17:67023790C>T ENST00000340001.4 - 13 1993 c.1782G>A c.(1780-1782)gtG>gtA p.V594V ABCA9_ENST00000370732.2_Silent_p.V594V|ABCA9_ENST00000453985.2_Silent_p.V594V NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 594 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CCTCTTTCTCCACTTCATGTG 0.353000 12 31 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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 12 16 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41687760 41687760 + Missense_Mutation SNP C C T rs147660035 TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr4:41687760C>T ENST00000313860.7 + 23 2903 c.2849C>T c.(2848-2850)aCg>aTg p.T950M LIMCH1_ENST00000512820.1_Missense_Mutation_p.T962M|LIMCH1_ENST00000511496.1_Missense_Mutation_p.T790M|LIMCH1_ENST00000514096.1_Missense_Mutation_p.T790M|LIMCH1_ENST00000503057.1_Missense_Mutation_p.T1334M|LIMCH1_ENST00000513024.1_Missense_Mutation_p.T803M|LIMCH1_ENST00000381753.4_Missense_Mutation_p.T783M|LIMCH1_ENST00000512946.1_Missense_Mutation_p.T950M|LIMCH1_ENST00000509277.1_Missense_Mutation_p.T783M|LIMCH1_ENST00000512632.1_Missense_Mutation_p.T873M|LIMCH1_ENST00000508501.1_Missense_Mutation_p.T949M|LIMCH1_ENST00000396595.3_Missense_Mutation_p.T795M NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 950 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TCAAATCCAACGCACAGTTCA 0.443000 14 31 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121671570 121671570 + Missense_Mutation SNP T T C TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr7:121671570T>C ENST00000393386.2 + 15 5534 c.5123T>C c.(5122-5124)gTt>gCt p.V1708A PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V848A NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1708 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CCAAAGCATGTTGCAGATTTA 0.279000 13 34 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72685542 72685542 + RNA SNP G G A rs2539086 TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr7:72685542G>A ENST00000425256.1 - 0 116 NR_002164.1 ACGTTACCATGACAAAAGCAG 0.463000 4 54 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88439245 88439245 + Missense_Mutation SNP C C T TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr10:88439245C>T ENST00000429277.2 + 3 360 c.215C>T c.(214-216)gCc>gTc p.A72V LDB3_ENST00000458213.2_Missense_Mutation_p.A72V|LDB3_ENST00000372056.4_Missense_Mutation_p.A72V|LDB3_ENST00000361373.4_Missense_Mutation_p.A72V|LDB3_ENST00000263066.6_Missense_Mutation_p.A72V|LDB3_ENST00000372066.3_Missense_Mutation_p.A72V|LDB3_ENST00000352360.5_Missense_Mutation_p.A72V|LDB3_ENST00000310944.6_Missense_Mutation_p.A72V|LDB3_ENST00000542786.1_Missense_Mutation_p.A72V NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 72 PDZ. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 ATCAAGTCTGCCAGCTACAAC 0.617000 3 46 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730852 21730852 + Missense_Mutation SNP G G C TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr17:21730852G>C ENST00000584755.1 + 2 551 c.154G>C c.(154-156)Gat>Cat p.D52H UBBP4_ENST00000578713.1_Missense_Mutation_p.D52H|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GCAGCGGGAAGATGGCCGCAG 0.522000 7 21 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771878 143771878 + Missense_Mutation SNP C C T TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr7:143771878C>T ENST00000408898.2 + 1 604 c.566C>T c.(565-567)gCg>gTg p.A189V NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A189E(1)|p.A189V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CTTGCCTGTGCGGATACCCAC 0.433000 26 77 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88731862 88731862 + Silent SNP C C T TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr4:88731862C>T ENST00000226284.5 + 6 418 c.351C>T c.(349-351)gaC>gaT p.D117D NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 117 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) ATGGAGAGGACGCCACGCCTG 0.423000 15 50 0 0 1 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91338462 91338462 + Missense_Mutation SNP T T C TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr14:91338462T>C ENST00000261991.3 - 17 2538 c.2365A>G c.(2365-2367)Aat>Gat p.N789D RPS6KA5_ENST00000536315.2_Missense_Mutation_p.N710D NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 789 axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TCCGGGTTATTGCTGTCGGCA 0.512000 13 43 0 0 1 0 0 SCARB2 950 broad.mit.edu 37 4 77100703 77100703 + Silent SNP G G T rs148029250 by1000genomes TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr4:77100703G>T ENST00000264896.2 - 4 928 c.579C>A c.(577-579)ccC>ccA p.P193P SCARB2_ENST00000452464.2_Intron NM_005506.3 NP_005497.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 193 cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22 Lung(101;0.196) GAGAGATATCGGGCCTGAAAA 0.443000 3 65 6.4e-05 6.4e-05 1 1 0 TMEM95 339168 broad.mit.edu 37 17 7258606 7258606 + Missense_Mutation SNP C C T rs150578277 TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr17:7258606C>T ENST00000389982.4 + 1 165 c.83C>T c.(82-84)tCa>tTa p.S28L TMEM95_ENST00000330767.4_Missense_Mutation_p.S28L|TMEM95_ENST00000576060.1_Missense_Mutation_p.S28L Q3KNT9 TMM95_HUMAN transmembrane protein 95 28 integral to membrane large_intestine(1)|lung(2) 3 Prostate(122;0.173) CACGACTTGTCAGGCCGCCTG 0.637000 12 23 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 375793 375793 + Missense_Mutation SNP G G A TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr19:375793G>A ENST00000342640.4 - 1 220 c.178C>T c.(178-180)Cca>Tca p.P60S THEG_ENST00000346878.2_Missense_Mutation_p.P60S NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 60 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTCTTCTGGGTCTTCTGGT 0.642000 20 36 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791721 42791721 + Missense_Mutation SNP C C T TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr19:42791721C>T ENST00000572681.2 + 6 3402 c.3334C>T c.(3334-3336)Ccc>Tcc p.P1112S CIC_ENST00000160740.3_Missense_Mutation_p.P203S|CIC_ENST00000575354.2_Missense_Mutation_p.P203S Q96RK0 CIC_HUMAN capicua transcriptional repressor 203 Pro-rich. 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) CATCCGGCGGCCCATGAATGC 0.627000 """Mis, F, S""" oligodendroglioma 17 15 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55569612 55569612 + Frame_Shift_Del DEL A A - TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr1:55569612delA ENST00000294383.6 - 42 4961 c.4962delT c.(4960-4962)atfs p.I1656fs USP24_ENST00000407756.1_Frame_Shift_Del_p.I1496fs NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1656 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CTTTTATAATAATTTGAAGAT 0.383 2 4 --- --- --- --- FUBP1 8880 broad.mit.edu 37 1 78430388 78430389 + Frame_Shift_Ins INS - - AG TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr1:78430388_78430389insAG ENST00000370767.1 - 10 866_867 c.779_780insCT c.(778-780)gttfs p.V260fs FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.V281fs|FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.V260fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 260 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 CTTCTCTGAAACCGCCTTGATC 0.347 """F, N""" oligodendroglioma 31 62 --- --- --- --- RP11-739N20.2 0 broad.mit.edu 37 1 204363978 204363979 + RNA INS - - AA TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr1:204363978_204363979insAA ENST00000443515.1 + 0 146 gatttgtttttcaaaaaaaaaa 0.302 2 4 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 2 4 --- --- --- --- MAST3 23031 broad.mit.edu 37 19 18234405 18234405 + Frame_Shift_Del DEL G G - TCGA-DU-A6S2-01A-21D-A32B-08 TCGA-DU-A6S2-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d3cef6-c768-44ae-934f-fd728808a0e0 7ef54b90-9886-4974-9edf-81deb8bc2af2 g.chr19:18234405delG ENST00000262811.5 + 7 486 c.486delG c.(484-486)acfs p.T162fs NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 162 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GCCGTGCAACGGGGACCTTCG 0.607 2 4 --- --- --- ---