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 FIGF 2277 broad.mit.edu 37 X 15365368 15365368 + Missense_Mutation SNP T T G TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chrX:15365368T>G ENST00000297904.3 - 6 1285 c.856A>C c.(856-858)Aaa>Caa p.K286Q FIGF_ENST00000488351.1_5'UTR NM_004469.4 NP_004460.1 O43915 VEGFD_HUMAN c-fos induced growth factor (vascular endothelial growth factor D) 286 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 Hepatocellular(33;0.183) CTGCAGTTTTTGGGGTGCTGG 0.488000 3 82 0 0 1 0 0 MIR412 0 broad.mit.edu 37 14 101531828 101531828 + RNA SNP T T C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr14:101531828T>C ENST00000362142.2 + 0 45 NR_030155.1 AAGTAATTGTTTCTAATGTAC 0.627000 5 218 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233348844 233348844 + Missense_Mutation SNP G G A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr2:233348844G>A ENST00000304546.1 - 7 1484 c.1274C>T c.(1273-1275)gCa>gTa p.A425V ECEL1_ENST00000409941.1_Missense_Mutation_p.A425V NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 425 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CATCTCCTGTGCCAGCTCGTG 0.647000 42 67 0 0 1 0 0 DHRS7 51635 broad.mit.edu 37 14 60616907 60616907 + Splice_Site SNP T T C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr14:60616907T>C ENST00000216500.5 - 6 1089 c.e6-2 DHRS7_ENST00000536410.2_Splice_Site|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_Intron|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Splice_Site Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 binding|oxidoreductase activity endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) AAAAAAACCCTAACAGACAAA 0.333000 5 19 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195390637 195390637 + RNA SNP A A C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr3:195390637A>C ENST00000445430.1 + 0 481 GCCATGGTCGAGGTGATGGGC 0.582000 3 18 0 0 1 0 0 TAPBP 6892 broad.mit.edu 37 6 33272093 33272093 + Silent SNP C C T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr6:33272093C>T ENST00000434618.2 - 5 1536 c.1191G>A c.(1189-1191)gaG>gaA p.E397E TAPBP_ENST00000426633.2_Silent_p.E397E|TAPBP_ENST00000475304.1_Silent_p.E415E|TAPBP_ENST00000489157.1_Silent_p.E310E|TAPBP_ENST00000456592.2_Silent_p.E397E NM_003190.4|NM_172209.2 NP_003181.3|NP_757346.2 O15533 TPSN_HUMAN TAP binding protein (tapasin) 397 Ig-like C1-type. antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 CCAGGGTGACCTCAGCGCTGC 0.642000 52 88 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 4 74 0 0 1 0 0 ALOX12 239 broad.mit.edu 37 17 6908626 6908626 + Silent SNP G G T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:6908626G>T ENST00000251535.6 + 9 1265 c.1212G>T c.(1210-1212)cgG>cgT p.R404R AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000573939.1_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 404 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 CCCGGGCCCGGACCCAACTCA 0.552000 OREG0024126 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 534 0.00448238 0.00481856 1 1 0 ENPP6 133121 broad.mit.edu 37 4 185012454 185012454 + Missense_Mutation SNP G G A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr4:185012454G>A ENST00000296741.2 - 8 1340 c.1199C>T c.(1198-1200)cCg>cTg p.P400L NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 400 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GTTGGGCAGCGGGGTGATGCC 0.587000 61 130 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77390913 77390913 + Nonsense_Mutation SNP C C A rs114160749 byFrequency TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr9:77390913C>A ENST00000451710.3 - 24 3526 c.3289G>T c.(3289-3291)Gag>Tag p.E1097* TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E1092*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E1092*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E1097*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.E1097* Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1097 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.E1097K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CAGGGCTTCTCGTGGTAGGTC 0.522000 3 162 0.115264 0.118008 1 1 0 ZNF142 7701 broad.mit.edu 37 2 219503377 219503377 + Missense_Mutation SNP G G C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr2:219503377G>C ENST00000411696.2 - 9 5528 c.4749C>G c.(4747-4749)caC>caG p.H1583Q ZNF142_ENST00000449707.1_Missense_Mutation_p.H1583Q P52746 ZN142_HUMAN zinc finger protein 142 1583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCTTGCGAAGGTGGGTGCGCA 0.622000 28 61 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324444 3324444 + Missense_Mutation SNP C C A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:3324444C>A ENST00000291231.1 + 1 583 c.583C>A c.(583-585)Cag>Aag p.Q195K NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 ACAGCTCTTCCAGCTCTCCTG 0.552000 56 90 8.83742e-36 1.05558e-35 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 40 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 169995788 169995788 + Missense_Mutation SNP A A G TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr2:169995788A>G ENST00000263816.3 - 74 13646 c.13361T>C c.(13360-13362)cTt>cCt p.L4454P NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4454 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGCAGGCAAAAGGGAGCCGGT 0.468000 4 90 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 140 0 0 1 0 0 KRBA2 124751 broad.mit.edu 37 17 8273458 8273458 + Missense_Mutation SNP C C A rs139656920 byFrequency TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:8273458C>A ENST00000396267.1 - 2 1058 c.227G>T c.(226-228)cGt>cTt p.R76L KRBA2_ENST00000331336.2_Missense_Mutation_p.R158L|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 158 KRAB. DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1) 18 TTTTGCTGCACGGCGATAATC 0.378000 35 204 4.44401e-20 5.16466e-20 1 1 0 GPRIN3 285513 broad.mit.edu 37 4 90169984 90169984 + Silent SNP G G T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr4:90169984G>T ENST00000333209.3 - 2 1796 c.1278C>A c.(1276-1278)gtC>gtA p.V426V NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 426 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) CATTACTGGAGACCAAATTGA 0.468000 4 167 0.00909568 0.00953937 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 43 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 4 164 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10789305 10789305 + Silent SNP C C T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr19:10789305C>T ENST00000449870.1 + 6 893 c.576C>T c.(574-576)aaC>aaT p.N192N ILF3_ENST00000318511.3_Silent_p.N192N|ILF3_ENST00000592763.1_Silent_p.N192N|ILF3_ENST00000420083.1_Silent_p.N192N|ILF3_ENST00000588657.1_Silent_p.N192N|ILF3_ENST00000590261.1_Silent_p.N192N|ILF3_ENST00000250241.8_Silent_p.N192N|ILF3_ENST00000407004.3_Silent_p.N192N|ILF3_ENST00000589998.1_Silent_p.N192N NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 192 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) TATCAGTCAACGACCCCCCGG 0.502000 4 154 0 0 1 0 0 ZNF263 10127 broad.mit.edu 37 16 3339612 3339612 + Nonsense_Mutation SNP C C T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr16:3339612C>T ENST00000574253.1 + 2 916 c.607C>T c.(607-609)Cga>Tga p.R203* ZNF263_ENST00000219069.5_Missense_Mutation_p.P369L|ZNF263_ENST00000538765.1_Missense_Mutation_p.P17L O14978 ZN263_HUMAN zinc finger protein 263 615 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 CTGGGGCGACCGAAGGAACTG 0.532000 33 37 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3347 3347 + Missense_Mutation SNP T T C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chrM:3347T>C ENST00000361390.2 + 1 41 c.41T>C c.(40-42)cTa>cCa p.14_14insP mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 TGTACCCATTCTAATCGCAAT 0.438000 4 0 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40024146 40024146 + Missense_Mutation SNP C C A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:40024146C>A ENST00000352035.2 - 29 3353 c.3223G>T c.(3223-3225)Gat>Tat p.D1075Y ACLY_ENST00000590151.1_Missense_Mutation_p.D1075Y|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000537919.1_Missense_Mutation_p.D804Y|ACLY_ENST00000393896.2_Missense_Mutation_p.D1065Y|ACLY_ENST00000353196.1_Missense_Mutation_p.D1065Y NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 1075 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CTCTTCTGATCAAGATAGTGT 0.433000 3 89 1 1 1 1 0 KCNA5 3741 broad.mit.edu 37 12 5154100 5154100 + Missense_Mutation SNP T T G TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr12:5154100T>G ENST00000252321.3 + 1 1016 c.787T>G c.(787-789)Tcc>Gcc p.S263A NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 263 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TATCCTCATCTCCATCATCAC 0.642000 35 258 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274424 39274424 + Missense_Mutation SNP G G C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:39274424G>C ENST00000391413.2 - 1 182 c.144C>G c.(142-144)agC>agG p.S48R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 48 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.S48R(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCCTGCAGCAGCTGGACACAC 0.672000 6 175 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42941058 42941058 + Missense_Mutation SNP C C T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:42941058C>T ENST00000426333.2 - 15 1675 c.1378G>A c.(1378-1380)Gac>Aac p.D460N EFTUD2_ENST00000592576.1_Missense_Mutation_p.D450N|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D460N|EFTUD2_ENST00000402521.3_Missense_Mutation_p.D425N NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 460 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) TCGCCGAGGTCGGAGTCCACA 0.552000 4 141 0 0 1 0 0 RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G T TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr9:41962602G>T ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 3 34 2.56e-06 2.89684e-06 1 1 0 NXPE2 120406 broad.mit.edu 37 11 114569205 114569205 + Missense_Mutation SNP C C G TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr11:114569205C>G ENST00000375475.5 + 3 669 c.571C>G c.(571-573)Ctg>Gtg p.L191V NXPE2_ENST00000389586.4_Missense_Mutation_p.L191V neurexophilin and PC-esterase domain family, member 2 TTCCCTGTCTCTGCTGCTCAT 0.537000 3 47 0 0 1 0 0 RP11-119F19.2 0 broad.mit.edu 37 10 81444997 81444997 + RNA SNP T T C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr10:81444997T>C ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA ACAACAATTTTCGGGCTTGCA 0.612000 2 11 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78073390 78073390 + Missense_Mutation SNP G G A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr17:78073390G>A ENST00000397545.4 + 20 3272 c.3245G>A c.(3244-3246)cGc>cAc p.R1082H NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1082 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AAGGAGGGGCGCTACGTGTTC 0.602000 3 67 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 27 43 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 4 125 0 0 1 0 0 SAMD5 389432 broad.mit.edu 37 6 147830172 147830172 + Silent SNP C C A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr6:147830172C>A ENST00000367474.1 + 1 110 c.108C>A c.(106-108)atC>atA p.I36I NM_001030060.2 NP_001025231.1 Q5TGI4 SAMD5_HUMAN sterile alpha motif domain containing 5 36 SAM. Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112) GCAAGCAGATCGGGGACCCGG 0.667000 11 70 0.00136819 0.00150852 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 44 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110746110 110746110 + Missense_Mutation SNP G G C TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr6:110746110G>C ENST00000368919.3 - 8 1766 c.1700C>G c.(1699-1701)gCg>gGg p.A567G SLC22A16_ENST00000330550.4_Missense_Mutation_p.A533G NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 567 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GGGGGTAATCGCTTCCGTTTT 0.423000 78 113 0 0 1 0 0 ETNK2 55224 broad.mit.edu 37 1 204115853 204115853 + Silent SNP G G A rs139650333 TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr1:204115853G>A ENST00000367202.4 - 3 708 c.558C>T c.(556-558)caC>caT p.H186H ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367201.3_Silent_p.H186H|ETNK2_ENST00000367198.2_Silent_p.H8H NM_018208.2 NP_060678.2 Q9NVF9 EKI2_HUMAN ethanolamine kinase 2 186 ATP binding|choline kinase activity|ethanolamine kinase activity p.H186H(1) breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1) 7 all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) TGCCGTTGGCGTGGATAGTAT 0.498000 4 114 0 0 1 0 0 AC007092.1 0 broad.mit.edu 37 2 58655794 58655796 + RNA DEL TGC TGC - rs10589511 TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr2:58655794_58655796delTGC ENST00000452840.1 + 0 127 TCTGTTCGTTtgctgctgctgct 0.700 4 5 --- --- --- --- UBA3 9039 broad.mit.edu 37 3 69124604 69124605 + Frame_Shift_Ins INS - - TAAG rs71302167 TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr3:69124604_69124605insTAAG ENST00000361055.4 - 4 294_295 c.240_241insCTTA c.(238-243)ttgatgfs p.LM80fs UBA3_ENST00000415609.2_Intron|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000349511.4_Frame_Shift_Ins_p.LM66fs NM_003968.3 NP_003959.3 Q8TBC4 UBA3_HUMAN ubiquitin-like modifier activating enzyme 3 80 protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) AGCTCACATCCTAAGCCGCCAG 0.342 8 32 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 8 711 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828727 61828729 + In_Frame_Del DEL GTG GTG - TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr10:61828727_61828729delGTG ENST00000280772.1 - 37 12101_12103 c.11910_11912delCAC c.(11908-11913)act>ac p.TT3976del ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3976 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 agtggtggtagtggtggtggtgg 0.468 7 159 --- --- --- --- LRCH1 23143 broad.mit.edu 37 13 47243183 47243186 + Frame_Shift_Del DEL CCTG CCTG - TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr13:47243183_47243186delCCTG ENST00000311191.6 + 3 700_703 c.471_474delCCTG c.(469-474)gcfs p.AL157fs LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389798.3_Frame_Shift_Del_p.AL157fs NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 157 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) AGCTGTCCGCCCTGCCTGCCTGCC 0.436 8 316 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 7 86 --- --- --- --- NCOR1P1 0 broad.mit.edu 37 20 26084428 26084428 + RNA DEL C C - TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr20:26084428delC ENST00000478176.1 - 0 150 NR_003678.1 TCTAATGAAACCTTTAGTAGT 0.313 4 7 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-DJ-A3UO-01A-11D-A22D-08 TCGA-DJ-A3UO-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e8599b5-687b-4133-89d7-0a11a64176bf e56f171c-bb12-4ae8-8941-9deaaba66df8 g.chr20:29628226delG ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 8 195 --- --- --- ---