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 SEC23A 10484 broad.mit.edu 37 14 39560843 39560843 + Silent SNP C C T TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr14:39560843C>T uc001wup.1 - 4 664 c.441G>A c.(439-441)ctG>ctA p.L147L SEC23A_uc010tqa.1_Silent_p.L9L|SEC23A_uc010tqb.1_Silent_p.L118L|SEC23A_uc010tqc.1_Silent_p.L9L NM_006364 NP_006355 Q15436 SC23A_HUMAN Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA. 147 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TGGATTCTTTCAGGGCTTGTA 0.383000 6 76 0 0 1 0 0 INPP5K 51763 broad.mit.edu 37 17 1400056 1400056 + Silent SNP G G C TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr17:1400056G>C uc002fsr.3 - 8 1394 c.1005C>G c.(1003-1005)ccC>ccG p.P335P INPP5K_uc002fss.3_Silent_p.P259P|INPP5K_uc002fsq.3_Silent_p.P259P|INPP5K_uc010cjr.3_Silent_p.P259P|INPP5K_uc010vql.2_Silent_p.P243P|INPP5K_uc010vqm.2_Silent_p.P239P NM_016532 NP_570122 Q9BT40 INP5K_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA. 335 Required for ruffle localization. actin cytoskeleton organization cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding endometrium(1)|large_intestine(7)|lung(3)|skin(1) 12 ACAGGTCCTCGGGCATCAGGA 0.582000 3 43 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65186416 65186416 + Missense_Mutation SNP G G C TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr17:65186416G>C uc010wqk.2 - 9 800 c.613C>G c.(613-615)Cag>Gag p.Q205E HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.Q205E NM_014877 NP_055692 Homo sapiens helicase with zinc finger (HELZ), mRNA. p.Q205*(2) NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGTTCTTCCTGGGAATGTGCT 0.378000 3 44 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47744665 47744665 + Missense_Mutation SNP G G A TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr11:47744665G>A uc009ylv.3 - 14 2821 c.2668C>T c.(2668-2670)Cca>Tca p.P890S FNBP4_uc001ngj.3_Missense_Mutation_p.P797S NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN Homo sapiens formin binding protein 4 (FNBP4), mRNA. 890 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 GCCTGAACTGGCTGCAATGAG 0.547000 3 39 0 0 1 0 0