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 SBF1 6305 broad.mit.edu 37 22 50898528 50898528 + Missense_Mutation SNP C C T TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chr22:50898528C>T ENST00000380817.2 - 26 3527 c.3344G>A c.(3343-3345)cGc>cAc p.R1115H SBF1_ENST00000390679.3_Missense_Mutation_p.R1115H|SBF1_ENST00000348911.6_Missense_Mutation_p.R1116H NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1115 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CATGGTCATGCGGTCGGAGGG 0.677000 4 43 0 0 1 0 0 OBP2A 29991 broad.mit.edu 37 9 138440527 138440527 + Missense_Mutation SNP T T C rs2590501 by1000genomes TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chr9:138440527T>C ENST00000340780.3 + 5 469 c.427T>C c.(427-429)Tgg>Cgg p.W143R OBP2A_ENST00000539850.1_Intron|OBP2A_ENST00000371776.1_Intron|OBP2A_ENST00000342114.4_Missense_Mutation_p.L98S Q9NY56 OBP2A_HUMAN odorant binding protein 2A 0 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) GTCCCCACCTTGGCTCACCTG 0.597000 4 40 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2290333 2290333 + Missense_Mutation SNP C C A rs214803 byFrequency TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chr20:2290333C>A ENST00000381458.5 + 2 101 c.38C>A c.(37-39)aCg>aAg p.T13K NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 13 T -> K (in dbSNP:rs214803). cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.T13M(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) AACTGGCAGACGGCCTTCAAC 0.522000 7 152 0.00198382 0.00205729 1 1 0 SDHAP1 0 broad.mit.edu 37 3 195690192 195690192 + RNA SNP C C T rs112207499 by1000genomes TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chr3:195690192C>T ENST00000427841.1 - 0 2303 NR_003264.2 CTGTCATCACCGCATCTTGTC 0.438000 5 15 0 0 1 0 0 WBP11P1 0 broad.mit.edu 37 18 30092418 30092418 + RNA SNP C C A rs76638541 by1000genomes TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chr18:30092418C>A ENST00000567636.1 + 0 793 NR_003558.1 TTGGCCCTCCCCCTGGTCCAC 0.552000 5 84 3.59834e-05 3.87513e-05 1 1 0 FUNDC2P2 0 broad.mit.edu 37 2 84518438 84518438 + RNA SNP T T C rs1968722 by1000genomes TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chr2:84518438T>C ENST00000331369.5 + 0 632 TTTTTTCCAGTCAGCAGCCTC 0.478000 4 60 0 0 1 0 0 OBP2A 29991 broad.mit.edu 37 9 138440525 138440525 + Missense_Mutation SNP C C G rs2590500 by1000genomes TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chr9:138440525C>G ENST00000340780.3 + 5 467 c.425C>G c.(424-426)cCt>cGt p.P142R OBP2A_ENST00000539850.1_Intron|OBP2A_ENST00000371776.1_Intron|OBP2A_ENST00000342114.4_Silent_p.T97T Q9NY56 OBP2A_HUMAN odorant binding protein 2A 0 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) CTGTCCCCACCTTGGCTCACC 0.597000 4 38 0 0 1 0 0 TRGV5 0 broad.mit.edu 37 7 38389455 38389455 + RNA SNP G G C TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chr7:38389455G>C ENST00000390344.2 - 0 168 TGGAAGGAAAGGGACCAGATG 0.562000 4 35 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48807367 48807367 + Silent SNP C C A rs28582401 by1000genomes TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chr19:48807367C>A ENST00000315396.7 - 7 1267 c.585G>T c.(583-585)ctG>ctT p.L195L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 195 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) CGCGCTCCCGCAGCAAGCCCA 0.682000 5 55 5.9392e-07 6.6519e-07 1 1 0 EN1 2019 broad.mit.edu 37 2 119604526 119604528 + In_Frame_Del DEL TGC TGC - TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chr2:119604526_119604528delTGC ENST00000295206.6 - 1 726_728 c.216_218delGCA c.(214-219)ccc>cc p.PH72del NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 72 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 tggggggaggtgcgggtggtggg 0.773 2 4 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 3 3 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546140 3546141 + RNA INS - - A rs74546027 TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chr16:3546140_3546141insA ENST00000574423.2 + 0 111 gactccgtctcaaaaaaaaaaa 0.559 2 4 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578865 154578865 + RNA DEL G G - rs150846040 by1000genomes TCGA-KC-A4BO-01A-61D-A257-08 TCGA-KC-A4BO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488dd6cb-687e-4246-bd35-d45f3c5fadf1 785ea44e-05df-43df-8acc-c0fda6852721 g.chrX:154578865delG ENST00000412436.1 - 0 98 RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA TTTTCTCTCTGTTTTTTTTTT 0.418 3 3 --- --- --- ---