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 F11R 50848 broad.mit.edu 37 1 160971131 160971131 + Missense_Mutation SNP A A G TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr1:160971131A>G ENST00000368026.6 - 2 351 c.77T>C c.(76-78)tTg>tCg p.L26S F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.L26S NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 26 blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) AACACTGCCCAATGCCAGGGA 0.542000 3 39 0 0 1 0 0 FASTKD5 60493 broad.mit.edu 37 20 3128950 3128950 + Missense_Mutation SNP C C T TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr20:3128950C>T ENST00000380266.3 - 2 1088 c.767G>A c.(766-768)cGc>cAc p.R256H UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 256 R -> C (in dbSNP:rs3746700). apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 AGGTACTTTGCGGCCTAAGTA 0.393000 4 78 0 0 1 0 0 FBXO27 126433 broad.mit.edu 37 19 39522616 39522616 + Silent SNP G G A TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr19:39522616G>A ENST00000292853.4 - 2 371 c.252C>T c.(250-252)caC>caT p.H84H FBXO27_ENST00000600828.1_Silent_p.H84H|FBXO27_ENST00000509137.2_Silent_p.H84H NM_178820.3 NP_849142.1 Q8NI29 FBX27_HUMAN F-box protein 27 84 protein catabolic process SCF ubiquitin ligase complex glycoprotein binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2) 17 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TGCGGGCGAGGTGCAGCAGCG 0.736000 3 4 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 5 19 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122674895 122674895 + Missense_Mutation SNP G G A TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr12:122674895G>A ENST00000339777.4 + 5 909 c.881G>A c.(880-882)cGg>cAg p.R294Q LRRC43_ENST00000425921.1_Missense_Mutation_p.R109Q NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 294 LRRCT. NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CATCTCTTCCGGGGGCTCAGC 0.667000 4 58 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 5 107 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 12 0 0 1 0 0 MAGOH 4116 broad.mit.edu 37 1 53692717 53692717 + Silent SNP C C T rs75427086 byFrequency TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr1:53692717C>T ENST00000371470.3 - 5 602 c.441G>A c.(439-441)taG>taA p.*147* MAGOH_ENST00000371466.4_Silent_p.*110* NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 0 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 AATATTCAGTCTAGATTGGTT 0.368000 3 26 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29574694 29574694 + Missense_Mutation SNP G G A TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr6:29574694G>A ENST00000377034.4 - 18 2532 c.2197C>T c.(2197-2199)Cct>Tct p.P733S GABBR1_ENST00000377012.4_Missense_Mutation_p.P616S|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_Missense_Mutation_p.P671S|GABBR1_ENST00000355973.3_Missense_Mutation_p.P616S NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 733 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) CGGTGCAGAGGGTCCACGATC 0.587000 15 33 0 0 1 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951512 130951512 + Silent SNP C C T rs146523442 TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr2:130951512C>T ENST00000312988.7 - 4 1003 c.903G>A c.(901-903)caG>caA p.Q301Q NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 301 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) ACTTGACCATCTGATTGGCTG 0.602000 5 126 0 0 1 0 0 MAGOH 4116 broad.mit.edu 37 1 53692748 53692748 + Missense_Mutation SNP A A G TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr1:53692748A>G ENST00000371470.3 - 5 571 c.410T>C c.(409-411)aTt>aCt p.I137T MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 137 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding p.I137T(1) haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 GTGTAATCCAATAAGACTGAA 0.378000 3 29 0 0 1 0 0 RP11-377D9.3 0 broad.mit.edu 37 12 13174142 13174144 + RNA DEL AAC AAC - rs59907395 TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr12:13174142_13174144delAAC ENST00000543321.1 + 0 1025 ctgtctcaaaaacaacaacaaca 0.552 4 8 --- --- --- --- SNX29P2 440352 broad.mit.edu 37 16 29439785 29439786 + RNA INS - - A TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr16:29439785_29439786insA ENST00000398878.3 + 0 5991 GTGGAACCATTAAAAAAAAACA 0.351 2 4 --- --- --- --- FAM83D 81610 broad.mit.edu 37 20 37555202 37555202 + Frame_Shift_Del DEL G G - TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr20:37555202delG ENST00000217429.4 + 1 248 c.207delG c.(205-207)ctfs p.L69fs NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 39 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) TGGAGGAGCTGGTGGCGGGCG 0.736 2 4 --- --- --- ---