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 CAPN2 824 broad.mit.edu 37 1 223943324 223943324 + Missense_Mutation SNP G G A TCGA-FP-8210-01A-11D-2340-08 TCGA-FP-8210-11A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684ff3b4-a44b-46c5-8739-8dfcf614e534 5e6337c8-d4d5-48d8-9311-f286f2126e4e g.chr1:223943324G>A uc001hob.3 + 10 1502 c.1278G>A c.(1276-1278)ATG>ATA p.M426I CAPN2_uc010puy.1_Missense_Mutation_p.M348I|CAPN2_uc001hoc.2_5'Flank NM_001748 NP_001739 P17655 CAN2_HUMAN calpain 2 isoform 1 426 Domain III. proteolysis cytoplasm|plasma membrane lung(3)|breast(1)|skin(1) 5 GBM - Glioblastoma multiforme(131;0.109) GCGAGGACATGCACACCATCG 0.532000 SLC28A2 9153 broad.mit.edu 37 15 45564491 45564491 + Splice_Site SNP A A G TCGA-FP-8210-01A-11D-2340-08 TCGA-FP-8210-11A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684ff3b4-a44b-46c5-8739-8dfcf614e534 5e6337c8-d4d5-48d8-9311-f286f2126e4e g.chr15:45564491A>G uc001zva.2 + 16 1714 c.1649_splice c.e16-2 p.T550_splice NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TATTGTCTGCAGCATCAATAG 0.483000 TNRC6A 27327 broad.mit.edu 37 16 24834270 24834270 + Missense_Mutation SNP G G A TCGA-FP-8210-01A-11D-2340-08 TCGA-FP-8210-11A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684ff3b4-a44b-46c5-8739-8dfcf614e534 5e6337c8-d4d5-48d8-9311-f286f2126e4e g.chr16:24834270G>A uc002dmm.2 + 24 5563 c.5449G>A c.(5449-5451)GGA>AGA p.G1817R TNRC6A_uc010bxs.2_Missense_Mutation_p.G1564R|TNRC6A_uc002dmn.2_Missense_Mutation_p.G1515R|TNRC6A_uc002dmo.2_Missense_Mutation_p.G1456R|TNRC6A_uc002dmr.2_Missense_Mutation_p.G16R NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1817 Sufficient for interaction with EIF2C2.|RRM. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) CCTCCCTCACGGAAATGCTCT 0.522000 CDH1 999 broad.mit.edu 37 16 68844182 68844182 + Missense_Mutation SNP A A G TCGA-FP-8210-01A-11D-2340-08 TCGA-FP-8210-11A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684ff3b4-a44b-46c5-8739-8dfcf614e534 5e6337c8-d4d5-48d8-9311-f286f2126e4e g.chr16:68844182A>G uc002ewg.1 + 6 894 c.770A>G c.(769-771)GAC>GGC p.D257G CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D257G NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 257 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2)|p.D257G(1)|p.D254fs*9(1) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GATCAGAATGACAACAAGCCC 0.463000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer NTSR2 23620 broad.mit.edu 37 2 11802136 11802136 + Silent SNP G G A rs148062399 byFrequency TCGA-FP-8210-01A-11D-2340-08 TCGA-FP-8210-11A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684ff3b4-a44b-46c5-8739-8dfcf614e534 5e6337c8-d4d5-48d8-9311-f286f2126e4e g.chr2:11802136G>A uc002rbq.3 - 2 929 c.855C>T c.(853-855)GAC>GAT p.D285D NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 285 Cytoplasmic (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) TCCGGCGCACGTCTTTATGTC 0.512000 SLU7 10569 broad.mit.edu 37 5 159830390 159830390 + Missense_Mutation SNP T T A TCGA-FP-8210-01A-11D-2340-08 TCGA-FP-8210-11A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684ff3b4-a44b-46c5-8739-8dfcf614e534 5e6337c8-d4d5-48d8-9311-f286f2126e4e g.chr5:159830390T>A uc003lyg.2 - 16 1818 c.1663A>T c.(1663-1665)ATG>TTG p.M555L NM_006425 NP_006416 O95391 SLU7_HUMAN step II splicing factor SLU7 555 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding ovary(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTTTCATACATGCTATTGTAA 0.483000