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 RP11-204M4.2 0 broad.mit.edu 37 9 41962620 41962620 + RNA SNP G G A rs137865170 by1000genomes TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr9:41962620G>A ENST00000454645.1 - 0 884 NR_003670.1 TCCTCTTACAGGAATCCCCTT 0.363000 4 23 0 0 1 0 0 TMEM257 9142 broad.mit.edu 37 X 144909459 144909459 + Missense_Mutation SNP G G T rs144670117 TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chrX:144909459G>T ENST00000408967.2 + 1 532 c.264G>T c.(262-264)atG>atT p.M88I NM_004709.2 NP_004700.1 transmembrane protein 257 ACAGCAAAATGGTTCCAGCCT 0.393000 4 21 0.000602214 0.000635671 1 1 0 MED12L 116931 broad.mit.edu 37 3 151107898 151107898 + Silent SNP C C T TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr3:151107898C>T ENST00000474524.1 + 36 5516 c.5478C>T c.(5476-5478)ttC>ttT p.F1826F MED12L_ENST00000273432.4_Silent_p.F1686F NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1826 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCGGCTTTTTCCTTCAGAACC 0.493000 35 126 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 4 42 0 0 1 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88207522 88207522 + Missense_Mutation SNP C C A TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr9:88207522C>A ENST00000357081.3 - 19 2665 c.2521G>T c.(2521-2523)Gtt>Ttt p.V841F AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.V801F|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.V853F|AGTPBP1_ENST00000432218.1_Intron Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 841 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 AAGTAGCAAACATCATCTTTA 0.313000 4 52 1 1 1 1 0 BCHE 590 broad.mit.edu 37 3 165548145 165548145 + Missense_Mutation SNP C C G TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr3:165548145C>G ENST00000264381.3 - 2 843 c.677G>C c.(676-678)aGt>aCt p.S226T BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 226 S -> G (in BChE deficiency; enzymatically inactive in the plasma). choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TGCTCCTGCACTTTCTCCAAA 0.428000 14 28 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151107899 151107899 + Missense_Mutation SNP C C A TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr3:151107899C>A ENST00000474524.1 + 36 5517 c.5479C>A c.(5479-5481)Ctt>Att p.L1827I MED12L_ENST00000273432.4_Missense_Mutation_p.L1687I NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1827 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CGGCTTTTTCCTTCAGAACCA 0.488000 36 127 3.28013e-08 3.77712e-08 1 1 0 ZC3H13 23091 broad.mit.edu 37 13 46549612 46549612 + Silent SNP C C T rs142530497 by1000genomes TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr13:46549612C>T ENST00000242848.4 - 12 2622 c.2274G>A c.(2272-2274)agG>agA p.R758R ZC3H13_ENST00000282007.3_Silent_p.R758R Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 758 Arg/Glu-rich. nucleic acid binding|zinc ion binding p.R758fs*104(1) cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) gctctctctccctctctctct 0.532000 4 29 0 0 1 0 0 DGCR14 8220 broad.mit.edu 37 22 19132143 19132143 + Missense_Mutation SNP G G A TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr22:19132143G>A ENST00000252137.6 - 1 54 c.11C>T c.(10-12)cCg>cTg p.P4L NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 4 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) TGATGCGCCCGGCGTCTCCAT 0.692000 8 6 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740357 37740357 + Missense_Mutation SNP C C T TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr9:37740357C>T ENST00000539465.1 + 15 2425 c.1832C>T c.(1831-1833)gCt>gTt p.A611V FRMPD1_ENST00000377765.3_Missense_Mutation_p.A611V|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.A433V|FRMPD1_ENST00000541302.1_Missense_Mutation_p.A480V Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 611 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TCCATGGACGCTCTGGAAGAG 0.612000 9 26 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110170707 110170707 + Silent SNP G G T TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr1:110170707G>T ENST00000256578.3 + 10 1605 c.1245G>T c.(1243-1245)gtG>gtT p.V415V AMPD2_ENST00000342115.4_Silent_p.V334V|AMPD2_ENST00000528667.1_Silent_p.V415V|AMPD2_ENST00000393688.3_Silent_p.V296V|AMPD2_ENST00000358729.4_Silent_p.V340V|AMPD2_ENST00000528454.1_Silent_p.V297V|AMPD2_ENST00000526301.1_3'UTR NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 415 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CATTCCAGGTGGACACCCACA 0.597000 3 33 0.115264 0.118379 1 1 0 RFTN1 23180 broad.mit.edu 37 3 16368297 16368297 + Silent SNP G G A rs139132308 TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr3:16368297G>A ENST00000334133.4 - 8 1505 c.1233C>T c.(1231-1233)ccC>ccT p.P411P RFTN1_ENST00000432519.1_Silent_p.P375P|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000544043.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000435829.2_Intron NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 411 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 TCTTGACGACGGGAGTTGGTA 0.512000 3 29 0 0 1 0 0 SETD7 80854 broad.mit.edu 37 4 140454300 140454300 + Missense_Mutation SNP G G C rs145857649 by1000genomes TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr4:140454300G>C ENST00000404104.3 - 3 1022 c.391C>G c.(391-393)Cac>Gac p.H131D SETD7_ENST00000406354.1_3'UTR|SETD7_ENST00000506866.2_Intron|SETD7_ENST00000274031.3_Intron Q8WTS6 SETD7_HUMAN SET domain containing (lysine methyltransferase) 7 0 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 all_hematologic(180;0.156) CCAGCAGAGTGAACAGTCACA 0.428000 11 21 0 0 1 0 0 OR6C75 390323 broad.mit.edu 37 12 55759273 55759273 + Missense_Mutation SNP C C A TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr12:55759273C>A ENST00000343399.3 + 1 379 c.379C>A c.(379-381)Cct>Act p.P127T NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 CATCTGCAAACCTCTTCATTA 0.468000 11 21 7.03913e-09 8.35896e-09 1 1 0 TIAM2 26230 broad.mit.edu 37 6 155569295 155569295 + Missense_Mutation SNP G G A TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr6:155569295G>A ENST00000461783.3 + 22 5087 c.3814G>A c.(3814-3816)Gag>Aag p.E1272K TIAM2_ENST00000528391.2_Missense_Mutation_p.E608K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E1296K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E648K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1272K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E1272K|TIAM2_ENST00000275246.7_Missense_Mutation_p.E197K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E584K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1272K Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1272 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GGAGAGCGAGGAGCACTACCA 0.687000 OREG0017745 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 33 0 0 1 0 0 SUOX 6821 broad.mit.edu 37 12 56397430 56397430 + Missense_Mutation SNP C C T TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr12:56397430C>T ENST00000394109.3 + 3 981 c.257C>T c.(256-258)aCt>aTt p.T86I SUOX_ENST00000394115.2_Missense_Mutation_p.T86I|SUOX_ENST00000548274.1_Missense_Mutation_p.T86I|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000551841.2_Missense_Mutation_p.T86I|SUOX_ENST00000266971.3_Missense_Mutation_p.T86I|SUOX_ENST00000356124.4_Missense_Mutation_p.T86I P51687 SUOX_HUMAN sulfite oxidase 86 Cytochrome b5 heme-binding. mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) CACATATACACTAAGGAGGAA 0.488000 13 41 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51640611 51640611 + Missense_Mutation SNP G G T TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr6:51640611G>T ENST00000371117.3 - 54 8824 c.8549C>A c.(8548-8550)aCa>aAa p.T2850K PKHD1_ENST00000340994.4_Missense_Mutation_p.T2850K NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2850 G8 2. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CTTACCAATTGTTCCTGGGTC 0.338000 12 26 2.27111e-07 2.5383e-07 1 1 0 PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 9 59 --- --- --- --- RP11-796E2.4 0 broad.mit.edu 37 12 92562207 92562207 + RNA DEL C C - TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr12:92562207delC ENST00000499685.2 + 0 164 ATGAGAGGCACCCCATATGTG 0.383 2 4 --- --- --- --- IGHV3-9 0 broad.mit.edu 37 14 106552636 106552637 + RNA INS - - CACTGTTTCTCT TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr14:106552636_106552637insCACTGTTTCTCT ENST00000390600.2 - 0 126 CCACACAAATCCACTCATGTCC 0.490 3 3 --- --- --- --- USP6 9098 broad.mit.edu 37 17 5076261 5076262 + Frame_Shift_Del DEL TA TA - TCGA-CE-A481-01A-21D-A23U-08 TCGA-CE-A481-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d410fec-2a49-4f9d-a430-c8680f20d3e8 168556c4-5ce6-4d1d-aa78-4be965e6225f g.chr17:5076261_5076262delTA ENST00000574788.1 + 38 6439_6440 c.4209_4210delTA c.(4207-4212)tctgfs p.SM1403fs USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Frame_Shift_Del_p.SM1086fs|USP6_ENST00000250066.6_Frame_Shift_Del_p.SM1403fs P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 1403 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AAAAGTACTCTATGTTACAGTA 0.450 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 12 29 --- --- --- ---