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 SPATA21 374955 broad.mit.edu 37 1 16727315 16727315 + Silent SNP C C A TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr1:16727315C>A ENST00000335496.1 - 11 1556 c.1074G>T c.(1072-1074)cgG>cgT p.R358R SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.R335R NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 358 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) GCTTCTGCAACCGCAGCCGGC 0.577 8 180 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141092024 141092024 + Missense_Mutation SNP G G T TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr2:141092024G>T ENST00000389484.3 - 79 13192 c.12221C>A c.(12220-12222)aCa>aAa p.T4074K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4074 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATCATACCTGTGGGTCTCTG 0.363 TSP Lung(27;0.18) 4 50 --- --- --- --- HIST1H2BG 8339 broad.mit.edu 37 6 26216864 26216864 + Missense_Mutation SNP T T A TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr6:26216864T>A ENST00000244601.3 - 1 8 c.8A>T c.(7-9)gAa>gTa p.E3V NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1, H2bg 3 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(11;0.196) CTTAGCTGGTTCAGGCATGCT 0.478 7 75 --- --- --- --- SERPINB3 6317 broad.mit.edu 37 18 61328408 61328408 + Missense_Mutation SNP G G T TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr18:61328408G>T ENST00000283752.5 - 2 186 c.43C>A c.(43-45)Ctg>Atg p.L15M SERPINB3_ENST00000332821.8_Missense_Mutation_p.L15M|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 15 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TGTTGGAACAGGTCGAACATG 0.433 8 153 --- --- --- ---