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 MOCS1 4337 broad.mit.edu 37 6 39893572 39893572 + Missense_Mutation SNP C C G rs147580725 TCGA-CS-6669-01A-11D-1893-08 TCGA-CS-6669-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218a9531-9264-43bc-8535-858d4cb0919e 4bc99b08-8b67-443e-88a4-03edef39d433 g.chr6:39893572C>G ENST00000373186.4 - 2 405 c.268G>C c.(268-270)Gag>Cag p.E90Q MOCS1_ENST00000432280.2_Missense_Mutation_p.E61Q|MOCS1_ENST00000373175.4_Missense_Mutation_p.E61Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E3Q|MOCS1_ENST00000425303.2_Missense_Mutation_p.E90Q|MOCS1_ENST00000373188.2_Missense_Mutation_p.E90Q|MOCS1_ENST00000308559.7_Missense_Mutation_p.E90Q|MOCS1_ENST00000340692.5_Missense_Mutation_p.E90Q NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 90 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) ACCCCCTCCTCGGGCATGCAG 0.612000 3 94 0 0 0.004672 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-CS-6669-01A-11D-1893-08 TCGA-CS-6669-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218a9531-9264-43bc-8535-858d4cb0919e 4bc99b08-8b67-443e-88a4-03edef39d433 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 38 0 0 0.014758 0 0 LRP1 4035 broad.mit.edu 37 12 57577587 57577587 + Missense_Mutation SNP G G T TCGA-CS-6669-01A-11D-1893-08 TCGA-CS-6669-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218a9531-9264-43bc-8535-858d4cb0919e 4bc99b08-8b67-443e-88a4-03edef39d433 g.chr12:57577587G>T ENST00000243077.3 + 36 6290 c.5824G>T c.(5824-5826)Ggc>Tgc p.G1942C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1942 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGTGGACATGGGCCTGAGCAC 0.577000 4 62 0.00024832 0.00148992 0.009096 1 0 YY1 7528 broad.mit.edu 37 14 100743846 100743846 + Missense_Mutation SNP G G T TCGA-CS-6669-01A-11D-1893-08 TCGA-CS-6669-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218a9531-9264-43bc-8535-858d4cb0919e 4bc99b08-8b67-443e-88a4-03edef39d433 g.chr14:100743846G>T ENST00000262238.4 + 5 1414 c.1154G>T c.(1153-1155)tGc>tTc p.C385F NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 385 Involved in masking transactivation domain. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.C385F(1) cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) CCCTATGTGTGCCCCTTCGAT 0.463000 7 69 2.7689e-08 1.93823e-07 0.029380 1 0 RP11-119F19.2 0 broad.mit.edu 37 10 81444997 81444997 + RNA SNP T T C TCGA-CS-6669-01A-11D-1893-08 TCGA-CS-6669-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218a9531-9264-43bc-8535-858d4cb0919e 4bc99b08-8b67-443e-88a4-03edef39d433 g.chr10:81444997T>C ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA ACAACAATTTTCGGGCTTGCA 0.612000 2 4 0 0 0.004672 0 0 LGI2 55203 broad.mit.edu 37 4 25005303 25005303 + Missense_Mutation SNP A A G TCGA-CS-6669-01A-11D-1893-08 TCGA-CS-6669-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218a9531-9264-43bc-8535-858d4cb0919e 4bc99b08-8b67-443e-88a4-03edef39d433 g.chr4:25005303A>G ENST00000382114.4 - 8 1593 c.1408T>C c.(1408-1410)Ttt>Ctt p.F470L NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 470 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TTAAAAGAAAAGGGCTGCAGG 0.488000 3 137 0 0 0.004672 0 0 HLA-V 0 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-CS-6669-01A-11D-1893-08 TCGA-CS-6669-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218a9531-9264-43bc-8535-858d4cb0919e 4bc99b08-8b67-443e-88a4-03edef39d433 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 4 9 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-CS-6669-01A-11D-1893-08 TCGA-CS-6669-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218a9531-9264-43bc-8535-858d4cb0919e 4bc99b08-8b67-443e-88a4-03edef39d433 g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 2 4 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21196192 21196192 + RNA DEL T T - TCGA-CS-6669-01A-11D-1893-08 TCGA-CS-6669-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218a9531-9264-43bc-8535-858d4cb0919e 4bc99b08-8b67-443e-88a4-03edef39d433 g.chr20:21196192delT ENST00000591761.1 - 0 119 PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA|RP4-777D9.2_ENST00000443753.1_RNA TTTGAAATACTTTTTTTTTAT 0.323 2 4 --- --- --- ---