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TCGA (2018)

Breast cancer dataset (, 1098 patients)

Partial genes are displayed. You can search gene by symbol or NCBI gene ID. Multiple gene search is possible (use comma for seperator).

Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Consequence 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 t_ref_count t_alt_count n_ref_count n_alt_count HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Hotspot transcript_source_WU EVS_All transcript_status_WU stop_WU ucsc_cons_WU EVS_EA transcript_species_WU default_gene_name_WU Unnamed: 53 tumor_vaf EVS_AA gene_name_WU variant_WU normal_ref_reads type_WU start_WU amino_acid_change_WU strand_WU c_position_WU all_domains_WU tumors_var_reads transcript_name_WU ensembl_gene_id reference_WU deletion_substructures_WU domain_WU gene_name_source_WU trv_type_WU transcript_error_WU normal_vaf tumor_ref_reads transcript_version_WU normal_var_reads chromosome_name_WU
0 ACPP 55.0 genome.wustl.edu GRCh37 3 132047117 132047117 + missense_variant Missense_Mutation SNP C C T NaN NaN TCGA-AR-A24X-01 TCGA-AR-A24X-10 C C NaN NaN NaN NaN Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17 7 NaN NaN ENST00000336375.5:c.127C>T p.Arg43Trp p.R43W ENST00000336375 NM_001099.4 43.0 Cgg/Tgg 0 ensembl - known 132047117 1 - human ACPP 0.2917 29.17 - ACPP T 20 SNP 132047117 p.R43W 1 c.127 pfam_His_Pase_superF_clade-2 7 ENST00000351273 ENSG00000014257 C - pfam_His_Pase_superF_clade-2 HGNC missense no_errors 0.0 17 69_37n 0 3
1 ALG13 79868.0 genome.wustl.edu GRCh37 X 110951473 110951473 + missense_variant Missense_Mutation SNP T T C NaN NaN TCGA-AR-A24X-01 TCGA-AR-A24X-10 T T NaN NaN NaN NaN Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 46 29 NaN NaN ENST00000394780.3:c.602T>C p.Leu201Pro p.L201P ENST00000394780 NM_001257231.1 201.0 cTg/cCg 0 ensembl - known 110951473 0 - human ALG13 0.3867 38.67 - ALG13 C 74 SNP 110951473 p.L97P 1 c.290 pfam_OTU,pfscan_OTU,pfscan_Tudor 29 ENST00000251943 ENSG00000101901 T - NaN HGNC missense no_errors 0.0 46 69_37n 0 X
2 AMY2A 279.0 genome.wustl.edu GRCh37 1 104166496 104166496 + synonymous_variant Silent SNP T T C NaN NaN TCGA-AR-A24X-01 TCGA-AR-A24X-10 T T NaN NaN NaN NaN Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45 6 NaN NaN ENST00000414303.2:c.1110T>C p.Asn370= p.N370= ENST00000414303 NM_000699.2 370.0 aaT/aaC 0 ensembl - known 104166496 1 - human AMY2A 0.1176 11.76 - AMY2A C 60 SNP 104166496 p.N370 1 c.1110 pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase 6 ENST00000414303 ENSG00000243480 T - superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom HGNC silent no_errors 0.0 45 69_37n 0 1
3 B4GALT1 2683.0 genome.wustl.edu GRCh37 9 33135286 33135286 + synonymous_variant Silent SNP T T C NaN NaN TCGA-AR-A24X-01 TCGA-AR-A24X-10 T T NaN NaN NaN NaN Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34 12 NaN NaN ENST00000379731.4:c.549A>G p.Pro183= p.P183= ENST00000379731 NM_001497.3 183.0 ccA/ccG 0 ensembl - known 33135286 0.99 - human B4GALT1 0.2609 26.09 - B4GALT1 C 55 SNP 33135286 p.P183 -1 c.549 pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met 12 ENST00000379731 ENSG00000086062 T - pfam_Galactosyl_T_2_met HGNC silent no_errors 0.0 34 69_37n 0 9
4 CARD6 84674.0 genome.wustl.edu GRCh37 5 40841761 40841761 + synonymous_variant Silent SNP A A C NaN NaN TCGA-AR-A24X-01 TCGA-AR-A24X-10 A A NaN NaN NaN NaN Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48 23 NaN NaN ENST00000254691.5:c.277A>C p.Arg93= p.R93= ENST00000254691 NM_032587.3 93.0 Agg/Cgg 0 ensembl - known 40841761 0.003 - human CARD6 0.3239 32.39 - CARD6 C 63 SNP 40841761 p.R93 1 c.277 pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD 23 ENST00000254691 ENSG00000132357 A - superfamily_DEATH-like HGNC silent no_errors 0.0 48 69_37n 0 5
5 CCDC114 93233.0 genome.wustl.edu GRCh37 19 48821779 48821779 + synonymous_variant Silent SNP G G A NaN NaN TCGA-AR-A24X-01 TCGA-AR-A24X-10 G G NaN NaN NaN NaN Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17 13 NaN NaN ENST00000315396.7:c.114C>T p.Ser38= p.S38= ENST00000315396 NM_144577.3 38.0 agC/agT 0 ensembl - known 48821779 0 - human CCDC114 0.4333 43.33 - CCDC114 A 20 SNP 48821779 p.S38 -1 c.114 NaN 13 ENST00000315396 ENSG00000105479 G - NaN HGNC silent no_errors 0.0 17 69_37n 0 19
6 CDH1 999.0 genome.wustl.edu GRCh37 16 68862076 68862076 + splice_acceptor_variant Splice_Site SNP G G T NaN NaN TCGA-AR-A24X-01 TCGA-AR-A24X-10 G G NaN NaN NaN NaN Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27 23 NaN NaN ENST00000261769.5:c.2165-1G>T NaN p.X722_splice ENST00000261769 NM_004360.3 NaN NaN 0 ensembl - known 68862076 1 - human CDH1 0.46 46.00 - CDH1 T 74 SNP 68862076 e14-1 1 c.2165-1 - 23 ENST00000261769 ENSG00000039068 G - - HGNC splice_site no_errors 0.0 27 69_37n 0 16
7 CRK 1398.0 genome.wustl.edu GRCh37 17 1340206 1340206 + missense_variant Missense_Mutation SNP C C T NaN NaN TCGA-AR-A24X-01 TCGA-AR-A24X-10 C C NaN NaN NaN NaN Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 22 20 NaN NaN ENST00000300574.2:c.485G>A p.Arg162Gln p.R162Q ENST00000300574 NM_016823.3 162.0 cGg/cAg 0 ensembl - known 1340206 1 - human CRK 0.4762 47.62 - CRK T 52 SNP 1340206 p.R162Q -1 c.485 pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain 20 ENST00000300574 ENSG00000167193 C - pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain HGNC missense no_errors 0.0 22 69_37n 0 17
8 CROCCP2 84809.0 genome.wustl.edu GRCh37 1 16950687 16950687 + intron_variant,non_coding_transcript_variant Intron SNP G G T NaN NaN TCGA-AR-A24X-01 TCGA-AR-A24X-10 G G NaN NaN NaN NaN Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 17 5 NaN NaN ENST00000412962.1:n.1000+1583C>A NaN *334* ENST00000412962 NaN NaN NaN 0 ensembl - known 16950687 0.003 - human CROCCP2 0.2273 22.73 - CROCCP2 T 9 SNP 16950687 NaN -1 NaN - 5 ENST00000421700 ENSG00000215908 G - - HGNC rna no_errors 0.0 17 69_37n 0 1
9 ELF4 2000.0 genome.wustl.edu GRCh37 X 129201171 129201171 + missense_variant Missense_Mutation SNP C C T NaN NaN TCGA-AR-A24X-01 TCGA-AR-A24X-10 C C NaN NaN NaN NaN Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 12 10 NaN NaN ENST00000308167.5:c.1517G>A p.Gly506Glu p.G506E ENST00000308167 NM_001421.3 506.0 gGg/gAg 0 ensembl - known 129201171 0.152 - human ELF4 0.4545 45.45 - ELF4 T 22 SNP 129201171 p.G506E -1 c.1517 pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets 10 ENST00000308167 ENSG00000102034 C - NaN HGNC missense no_errors 0.0 12 69_37n 0 X