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 KIF25 3834 broad.mit.edu 37 6 168443303 168443303 + Missense_Mutation SNP G G T TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr6:168443303G>T uc003qwk.1 + 7 1154 c.892G>T c.(892-894)Gcc>Tcc p.A298S KIF25_uc003qwl.1_Intron NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA. 298 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.A297A(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CAGCCTTGCGGCCCTGGCAGG 0.662000 41 60 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140140038 140140038 + Missense_Mutation SNP G G A TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr3:140140038G>A uc003etn.3 + 4 899 c.709G>A c.(709-711)Gac>Aac p.D237N CLSTN2_uc003etm.2_Missense_Mutation_p.D237N NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 237 Cadherin 2. homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GACCGCCTACGACTGTGGACA 0.517000 HNSCC(16;0.037) 11 157 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19070964 19070964 + Missense_Mutation SNP C C T TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr16:19070964C>T uc002dfp.2 + 14 2384 c.2254C>T c.(2254-2256)Cgt>Tgt p.R752C TMC7_uc002dfq.3_Intron|TMC7_uc010vap.2_Intron NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 0 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GGCCCAGCCGCGTCCAGCTTC 0.517000 6 10 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141016186 141016186 + Missense_Mutation SNP C C T TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr9:141016186C>T uc004cog.3 + 45 6894 c.6749C>T c.(6748-6750)tCt>tTt p.S2250F CACNA1B_uc022bqn.1_Missense_Mutation_p.L2188F|CACNA1B_uc004coi.3_Missense_Mutation_p.S1464F NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 2252 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCCCCTGGCTCTCGAATTGGC 0.662000 17 25 0 0 1 0 0 SNRNP48 154007 broad.mit.edu 37 6 7601664 7601664 + Missense_Mutation SNP G G C rs141422613 TCGA-EM-A4FR-01A-11D-A257-08 TCGA-EM-A4FR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cea715a5-b042-482e-9a2a-aa2781a086e2 b6b2661b-4529-47d8-84aa-cf750080d78b g.chr6:7601664G>C uc003mxr.3 + 4 561 c.502G>C c.(502-504)Gta>Cta p.V168L SNRNP48_uc003mxs.3_Non-coding_Transcript NM_152551 NP_689764 Q6IEG0 SNR48_HUMAN Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA. 168 mRNA processing U12-type spliceosomal complex|cytoplasm metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 CTATGATTTCGTAGTTGAGGA 0.378000 34 60 0 0 1 0 0