TCGA
Breast cancer dataset (Nature 2012, 825 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 | 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 | MA:FImpact | MA:FIS | MA:protein.change | MA:link.MSA | MA:link.PDB | MA:link.var | Tumor_Sample_UUID | Matched_Norm_Sample_UUID | HGVSc | HGVSp | HGVSp_Short | Transcript_ID | Exon_Number | t_depth | t_ref_count | t_alt_count | n_depth | n_ref_count | n_alt_count | all_effects | Allele | Gene | Feature | Feature_type | Consequence | cDNA_position | CDS_position | Protein_position | Amino_acids | Codons | Existing_variation | ALLELE_NUM | DISTANCE | SYMBOL | SYMBOL_SOURCE | HGNC_ID | BIOTYPE | CANONICAL | CCDS | ENSP | SWISSPROT | TREMBL | UNIPARC | RefSeq | SIFT | PolyPhen | EXON | INTRON | DOMAINS | GMAF | AFR_MAF | AMR_MAF | ASN_MAF | EAS_MAF | EUR_MAF | SAS_MAF | AA_MAF | EA_MAF | CLIN_SIG | SOMATIC | PUBMED | MOTIF_NAME | MOTIF_POS | HIGH_INF_POS | MOTIF_SCORE_CHANGE | IMPACT | PICK | VARIANT_CLASS | TSL | HGVS_OFFSET | PHENO | MINIMISED | ExAC_AF | ExAC_AF_AFR | ExAC_AF_AMR | ExAC_AF_EAS | ExAC_AF_FIN | ExAC_AF_NFE | ExAC_AF_OTH | ExAC_AF_SAS | GENE_PHENO | FILTER | chromosome_name_wu | start_wu | stop_wu | reference_wu | variant_wu | type_wu | gene_name_wu | transcript_name_wu | transcript_species_wu | transcript_source_wu | transcript_version_wu | strand_wu | transcript_status_wu | trv_type_wu | c_position_wu | amino_acid_change_wu | ucsc_cons_wu | domain_wu | all_domains_wu | deletion_substructures_wu | annotation_errors_wu | ONCOTATOR_COSMIC_OVERLAPPING | ONCOTATOR_DBSNP_RS | ONCOTATOR_DBSNP_VAL_STATUS | ONCOTATOR_VARIANT_CLASSIFICATION | ONCOTATOR_PROTEIN_CHANGE | ONCOTATOR_GENE_SYMBOL | ONCOTATOR_REFSEQ_MRNA_ID | ONCOTATOR_REFSEQ_PROT_ID | ONCOTATOR_UNIPROT_ENTRY_NAME | ONCOTATOR_UNIPROT_ACCESSION | ONCOTATOR_CODON_CHANGE | ONCOTATOR_TRANSCRIPT_CHANGE | ONCOTATOR_EXON_AFFECTED | ONCOTATOR_PROTEIN_POS_START | ONCOTATOR_PROTEIN_POS_END | ONCOTATOR_VARIANT_CLASSIFICATION_BEST_EFFECT | ONCOTATOR_PROTEIN_CHANGE_BEST_EFFECT | ONCOTATOR_GENE_SYMBOL_BEST_EFFECT | ONCOTATOR_REFSEQ_MRNA_ID_BEST_EFFECT | ONCOTATOR_REFSEQ_PROT_ID_BEST_EFFECT | ONCOTATOR_UNIPROT_ENTRY_NAME_BEST_EFFECT | ONCOTATOR_UNIPROT_ACCESSION_BEST_EFFECT | ONCOTATOR_CODON_CHANGE_BEST_EFFECT | ONCOTATOR_TRANSCRIPT_CHANGE_BEST_EFFECT | ONCOTATOR_EXON_AFFECTED_BEST_EFFECT | ONCOTATOR_PROTEIN_POS_START_BEST_EFFECT | ONCOTATOR_PROTEIN_POS_END_BEST_EFFECT | chromosome_name_WU | start_WU | stop_WU | reference_WU | variant_WU | type_WU | gene_name_WU | transcript_name_WU | transcript_species_WU | transcript_source_WU | transcript_version_WU | strand_WU | transcript_status_WU | trv_type_WU | c_position_WU | amino_acid_change_WU | ucsc_cons_WU | domain_WU | all_domains_WU | deletion_substructures_WU | annotation_errors_WU | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0 | ANK3 | genome.wustl.edu | GRCh37 | 10 | 61834851 | 61834851 | -1 | Missense_Mutation | SNP | G | G | C | novel | unknown | TCGA-A1-A0SD-01 | TCGA-A1-A0SD-01-10A-01D-A110-09 | G | G | NaN | NaN | NaN | NaN | Unknown | Unknown | Somatic | Phase_IV | Capture | NaN | 1.0 | dbGAP | Illumina GAIIx | low | 1.355 | Q1930E | getma.org/?cm=msa&ty=f&p=ANK3_HUMAN&rb=1815&re=2593&var=Q1930E | NaN | getma.org/?cm=var&var=hg19,10,61834851,G,C&fts=all | NaN | NaN | c.5788C>G | p.Gln1930Glu | p.Q1930E | ENST00000280772 | 37/44 | 0.0 | . | . | 0.0 | . | . | ANK3,missense_variant,p.Gln1930Glu,ENST00000280772,NM_020987.3;ANK3,intron_variant,,ENST00000373827,NM_001204403.1;ANK3,intron_variant,,ENST00000503366,NM_001204404.1;ANK3,intron_variant,,ENST00000355288,NM_001149.3;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000511043,; | C | ENSG00000151150 | ENST00000280772 | Transcript | missense_variant | 5980/16874 | 5788/13134 | 1930/4377 | Q/E | Caa/Gaa | rs777939067,COSM427734 | 1.0 | NaN | ANK3 | HGNC | 494.0 | protein_coding | YES | CCDS7258.1 | ENSP00000280772 | ANK3_HUMAN | D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN | UPI0000141BA9 | NM_020987.3 | NaN | benign(0.01) | 37/44 | NaN | hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 0,1 | NaN | NaN | NaN | NaN | NaN | MODERATE | 1.0 | SNV | NaN | NaN | 0,1 | 1.0 | 0.000008 | NaN | NaN | NaN | NaN | NaN | NaN | 0.000061 | 1.0 | . | 10 | 61834851 | 61834851 | G | C | SNP | ANK3 | NM_020987 | human | genbank | 57_37b | -1 | reviewed | missense | c.5788 | p.Q1930E | 1.000 | NaN | superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_ZU5,HMMSmart_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death | - | no_errors | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 10 | 61834851 | 61834851 | G | C | SNP | ANK3 | NM_020987 | human | genbank | 57_37b | -1 | reviewed | missense | c.5788 | p.Q1930E | 1.000 | NaN | superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_ZU5,HMMSmart_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death | - | no_errors |
| 1 | HECTD4 | genome.wustl.edu | GRCh37 | 12 | 112622620 | 112622620 | -1 | Missense_Mutation | SNP | C | C | T | novel | unknown | TCGA-A1-A0SD-01 | TCGA-A1-A0SD-01-10A-01D-A110-09 | C | C | NaN | NaN | NaN | NaN | Unknown | Unknown | Somatic | Phase_IV | Capture | NaN | 1.0 | dbGAP | Illumina GAIIx | low | 0.895 | D2962N | getma.org/?cm=msa&ty=f&p=K0614_HUMAN&rb=2134&re=3169&var=D2962N | NaN | getma.org/?cm=var&var=hg19,12,112622620,C,T&fts=all | NaN | NaN | c.9712G>A | p.Asp3238Asn | p.D3238N | ENST00000550722 | 61/76 | 0.0 | . | . | 0.0 | . | . | HECTD4,missense_variant,p.Asp3238Asn,ENST00000550722,NM_001109662.3;HECTD4,missense_variant,p.Asp2962Asn,ENST00000430131,;HECTD4,missense_variant,p.Asp3212Asn,ENST00000377560,; | T | ENSG00000173064 | ENST00000550722 | Transcript | missense_variant | 10108/15405 | 9712/12819 | 3238/4272 | D/N | Gat/Aat | COSM430354,COSM430355 | 1.0 | NaN | HECTD4 | HGNC | 26611.0 | protein_coding | YES | NaN | ENSP00000449784 | NaN | F8VWT9_HUMAN,F8VU57_HUMAN | UPI00020CE513 | NM_001109662.3 | NaN | probably_damaging(0.996) | 61/76 | NaN | hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 1,1 | NaN | NaN | NaN | NaN | NaN | MODERATE | 1.0 | SNV | NaN | NaN | 1,1 | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | . | 12 | 112622620 | 112622620 | C | T | SNP | C12orf51 | NM_001109662 | human | genbank | 57_37b | -1 | provisional | missense | c.8884 | p.D2962N | 1.000 | NaN | superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT | - | no_errors | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 12 | 112622620 | 112622620 | C | T | SNP | C12orf51 | NM_001109662 | human | genbank | 57_37b | -1 | provisional | missense | c.8884 | p.D2962N | 1.000 | NaN | superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT | - | no_errors |
| 2 | DNAAF3 | genome.wustl.edu | GRCh37 | 19 | 55672470 | 55672470 | -1 | Missense_Mutation | SNP | T | C | C | rs2365725 | byCluster;byFrequency;by1000genomes | TCGA-A1-A0SD-01 | TCGA-A1-A0SD-01-10A-01D-A110-09 | T | T | NaN | NaN | NaN | NaN | Unknown | Unknown | Somatic | Phase_IV | Capture | NaN | 1.0 | dbGAP | Illumina GAIIx | medium | 2.375 | E292G | getma.org/?cm=msa&ty=f&p=DAAF3_HUMAN&rb=201&re=400&var=E292G | NaN | getma.org/?cm=var&var=hg19,19,55672470,T,C&fts=all | NaN | NaN | c.1079A>G | p.Glu360Gly | p.E360G | ENST00000527223 | 8/12 | 0.0 | . | . | 0.0 | . | . | DNAAF3,missense_variant,p.Glu360Gly,ENST00000527223,NM_001256714.1;DNAAF3,missense_variant,p.Glu339Gly,ENST00000391720,NM_178837.4,NM_001256715.1,NM_001256716.1;DNAAF3,missense_variant,p.Glu292Gly,ENST00000524407,;DNAAF3,missense_variant,p.Glu238Gly,ENST00000455045,;DNAAF3,upstream_gene_variant,,ENST00000588076,;TNNI3,upstream_gene_variant,,ENST00000344887,NM_000363.4;TNNI3,upstream_gene_variant,,ENST00000588882,;DNAAF3,downstream_gene_variant,,ENST00000532817,;DNAAF3,downstream_gene_variant,,ENST00000526003,;DNAAF3,downstream_gene_variant,,ENST00000534170,;TNNI3,upstream_gene_variant,,ENST00000586858,;CTD-2587H24.5,non_coding_transcript_exon_variant,,ENST00000591665,;DNAAF3,non_coding_transcript_exon_variant,,ENST00000527292,;DNAAF3,upstream_gene_variant,,ENST00000587789,;DNAAF3,downstream_gene_variant,,ENST00000527166,;DNAAF3,downstream_gene_variant,,ENST00000528476,;TNNI3,upstream_gene_variant,,ENST00000590463,;TNNI3,upstream_gene_variant,,ENST00000586669,;DNAAF3,3_prime_UTR_variant,,ENST00000528412,;DNAAF3,non_coding_transcript_exon_variant,,ENST00000533527,;TNNI3,upstream_gene_variant,,ENST00000587176,;CTD-2587H24.4,upstream_gene_variant,,ENST00000587871,;TNNI3,upstream_gene_variant,,ENST00000585806,;DNAAF3,downstream_gene_variant,,ENST00000526959,;TNNI3,upstream_gene_variant,,ENST00000586446,;DNAAF3,downstream_gene_variant,,ENST00000586877,;DNAAF3,downstream_gene_variant,,ENST00000534214,; | C | ENSG00000167646 | ENST00000527223 | Transcript | missense_variant | 1081/2228 | 1079/1827 | 360/608 | E/G | gAg/gGg | rs2365725,COSM440341,COSM3757236,COSM3757235 | 1.0 | NaN | DNAAF3 | HGNC | 30492.0 | protein_coding | YES | CCDS58680.1 | ENSP00000436975 | DAAF3_HUMAN | H0YD30_HUMAN,H0YCU4_HUMAN | UPI000013E6F1 | NM_001256714.1 | deleterious(0.01) | possibly_damaging(0.457) | 8/12 | NaN | hmmpanther:PTHR22118,hmmpanther:PTHR22118:SF4,Pfam_domain:PF14740 | C:0.2276 | C:0.5234 | C:0.1455 | NaN | C:0.0913 | C:0.1421 | C:0.1145 | C:0.3667 | C:0.1225 | NaN | 0,1,1,1 | NaN | NaN | NaN | NaN | NaN | MODERATE | 1.0 | SNV | NaN | NaN | 0,1,1,1 | 1.0 | 0.088900 | 0.507000 | 0.182000 | 0.106 | 0.15000 | 0.208000 | 0.195 | 0.141000 | 1.0 | common_variant | 19 | 55672470 | 55672470 | T | C | SNP | C19orf51 | NM_178837 | human | genbank | 57_37b | -1 | validated | missense | c.1016 | p.E339G | 0.566 | NaN | NaN | - | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 19 | 55672470 | 55672470 | T | C | SNP | C19orf51 | NM_178837 | human | genbank | 57_37b | -1 | validated | missense | c.1016 | p.E339G | 0.566 | NaN | NaN | - | NaN |
| 3 | CASK | genome.wustl.edu | GRCh37 | X | 41379771 | 41379771 | -1 | Missense_Mutation | SNP | T | T | C | novel | unknown | TCGA-A1-A0SD-01 | TCGA-A1-A0SD-01-10A-01D-A110-09 | T | T | NaN | NaN | NaN | NaN | Unknown | Unknown | Somatic | Phase_IV | Capture | NaN | 1.0 | dbGAP | Illumina GAIIx | neutral | -1.850 | I895V | getma.org/?cm=msa&ty=f&p=CSKP_HUMAN&rb=738&re=912&var=I895V | getma.org/pdb.php?prot=CSKP_HUMAN&from=738&to=912&var=I895V | getma.org/?cm=var&var=hg19,X,41379771,T,C&fts=all | NaN | NaN | c.2668A>G | p.Ile890Val | p.I890V | ENST00000378166 | 27/27 | 0.0 | . | . | 0.0 | . | . | CASK,missense_variant,p.Ile890Val,ENST00000318588,;CASK,missense_variant,p.Ile878Val,ENST00000361962,;CASK,missense_variant,p.Ile866Val,ENST00000421587,NM_001126055.2;CASK,missense_variant,p.Ile895Val,ENST00000378163,;CASK,missense_variant,p.Ile878Val,ENST00000378158,;CASK,missense_variant,p.Ile890Val,ENST00000378166,NM_003688.3;CASK,missense_variant,p.Ile487Val,ENST00000378179,;CASK,missense_variant,p.Ile867Val,ENST00000442742,NM_001126054.2;CASK,missense_variant,p.Ile350Val,ENST00000378168,;CASK-AS1,intron_variant,,ENST00000451126,; | C | ENSG00000147044 | ENST00000378166 | Transcript | missense_variant | 2695/3123 | 2668/2766 | 890/921 | I/V | Atc/Gtc | COSM457512 | 1.0 | NaN | CASK | HGNC | 1497.0 | protein_coding | YES | CCDS14257.1 | ENSP00000367408 | CSKP_HUMAN | NaN | UPI000013DA91 | NM_003688.3 | tolerated(1) | benign(0.001) | 27/27 | NaN | Superfamily_domains:SSF52540,SMART_domains:SM00072,Gene3D:3.40.50.300,Pfam_domain:PF00625,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF40,PROSITE_profiles:PS50052 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 1 | NaN | NaN | NaN | NaN | NaN | MODERATE | 1.0 | SNV | NaN | NaN | 1 | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 1.0 | . | X | 41379771 | 41379771 | T | C | SNP | CASK | NM_003688 | human | genbank | 57_37b | -1 | validated | missense | c.2668 | p.I890V | 1.000 | superfamily_SSF52540,HMMSmart_GuKc | HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,superfamily_SSF101288,HMMSmart_L27,HMMPfam_L27,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SSF52540,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin | - | no_errors | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | X | 41379771 | 41379771 | T | C | SNP | CASK | NM_003688 | human | genbank | 57_37b | -1 | validated | missense | c.2668 | p.I890V | 1.000 | superfamily_SSF52540,HMMSmart_GuKc | HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,superfamily_SSF101288,HMMSmart_L27,HMMPfam_L27,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SSF52540,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin | - | no_errors |
| 4 | CDHR3 | genome.wustl.edu | GRCh37 | 7 | 105636709 | 105636709 | 1 | Missense_Mutation | SNP | G | G | A | novel | unknown | TCGA-A1-A0SD-01 | TCGA-A1-A0SD-01-10A-01D-A110-09 | G | G | NaN | NaN | NaN | NaN | Unknown | Unknown | Somatic | Phase_IV | Capture | NaN | 1.0 | dbGAP | Illumina GAIIx | medium | 2.980 | V208M | getma.org/?cm=msa&ty=f&p=CDHR3_HUMAN&rb=141&re=227&var=V208M | NaN | getma.org/?cm=var&var=hg19,7,105636709,G,A&fts=all | NaN | NaN | c.622G>A | p.Val208Met | p.V208M | ENST00000317716 | 6/19 | 0.0 | . | . | 0.0 | . | . | CDHR3,missense_variant,p.Val208Met,ENST00000542731,;CDHR3,missense_variant,p.Val208Met,ENST00000317716,NM_152750.4;CDHR3,missense_variant,p.Val120Met,ENST00000478080,;CDHR3,5_prime_UTR_variant,,ENST00000343407,;CDHR3,intron_variant,,ENST00000541203,;CDHR3,intron_variant,,ENST00000470188,;CDHR3,intron_variant,,ENST00000461766,;CDHR3,intron_variant,,ENST00000496633,;CDHR3,intron_variant,,ENST00000488386,; | A | ENSG00000128536 | ENST00000317716 | Transcript | missense_variant | 702/3813 | 622/2658 | 208/885 | V/M | Gtg/Atg | rs200019471,COSM452114,COSM452115 | 1.0 | NaN | CDHR3 | HGNC | 26308.0 | protein_coding | YES | CCDS47684.1 | ENSP00000325954 | CDHR3_HUMAN | E7EQG5_HUMAN | UPI00001C0C6E | NM_152750.4 | tolerated(0.1) | possibly_damaging(0.463) | 6/19 | NaN | Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF289,SMART_domains:SM00112,Superfamily_domains:SSF49313 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | A:0.0003 | A:0.0002 | NaN | 0,1,1 | NaN | NaN | NaN | NaN | NaN | MODERATE | 1.0 | SNV | NaN | NaN | 0,1,1 | 1.0 | 0.000207 | 0.000133 | 0.000374 | NaN | 0.00118 | 0.000277 | NaN | NaN | NaN | common_variant | 7 | 105636709 | 105636709 | G | A | SNP | CDHR3 | NM_152750 | human | genbank | 57_37b | +1 | validated | missense | c.622 | p.V208M | 0.898 | superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 | superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 | - | no_errors | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 7 | 105636709 | 105636709 | G | A | SNP | CDHR3 | NM_152750 | human | genbank | 57_37b | +1 | validated | missense | c.622 | p.V208M | 0.898 | superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 | superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 | - | no_errors |
| 5 | CNTFR | genome.wustl.edu | GRCh37 | 9 | 34564705 | 34564705 | -1 | Missense_Mutation | SNP | C | C | T | novel | unknown | TCGA-A1-A0SD-01 | TCGA-A1-A0SD-01-10A-01D-A110-09 | C | C | NaN | NaN | NaN | NaN | Unknown | Unknown | Somatic | Phase_IV | Capture | NaN | 1.0 | dbGAP | Illumina GAIIx | medium | 2.295 | G71S | getma.org/?cm=msa&ty=f&p=CNTFR_HUMAN&rb=27&re=104&var=G71S | NaN | getma.org/?cm=var&var=hg19,9,34564705,C,T&fts=all | NaN | NaN | c.211G>A | p.Gly71Ser | p.G71S | ENST00000378980 | 4/10 | 0.0 | . | . | 0.0 | . | . | CNTFR,missense_variant,p.Gly71Ser,ENST00000378980,NM_147164.2,NM_001207011.1;CNTFR,missense_variant,p.Gly71Ser,ENST00000351266,NM_001842.4;CNTFR,missense_variant,p.Gly71Ser,ENST00000417345,;CNTFR-AS1,upstream_gene_variant,,ENST00000436360,;CNTFR-AS1,upstream_gene_variant,,ENST00000453642,;CNTFR-AS1,upstream_gene_variant,,ENST00000438244,;CNTFR-AS1,upstream_gene_variant,,ENST00000454187,; | T | ENSG00000122756 | ENST00000378980 | Transcript | missense_variant | 505/2052 | 211/1119 | 71/372 | G/S | Ggc/Agc | rs753060196,COSM455870 | 1.0 | NaN | CNTFR | HGNC | 2170.0 | protein_coding | YES | CCDS6558.1 | ENSP00000368265 | CNTFR_HUMAN | Q5T8H6_HUMAN,B3KXJ2_HUMAN | UPI0000000DBD | NM_147164.2,NM_001207011.1 | deleterious(0.02) | probably_damaging(0.999) | 4/10 | NaN | Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF93,PROSITE_profiles:PS50835 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 0,1 | NaN | NaN | NaN | NaN | NaN | MODERATE | 1.0 | SNV | NaN | NaN | 0,1 | 1.0 | 0.000017 | NaN | NaN | NaN | NaN | 0.000030 | NaN | NaN | NaN | . | 9 | 34564705 | 34564705 | C | T | SNP | CNTFR | ENST00000351266 | human | ensembl | 57_37b | -1 | known | missense | c.211 | p.G71S | 1.000 | superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig | superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_L_F3,HMMSmart_SM00060,HMMPfam_fn3 | - | no_errors | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 9 | 34564705 | 34564705 | C | T | SNP | CNTFR | ENST00000351266 | human | ensembl | 57_37b | -1 | known | missense | c.211 | p.G71S | 1.000 | superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig | superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_L_F3,HMMSmart_SM00060,HMMPfam_fn3 | - | no_errors |
| 6 | COL14A1 | genome.wustl.edu | GRCh37 | 8 | 121344960 | 121344960 | 1 | Missense_Mutation | SNP | G | G | A | novel | unknown | TCGA-A1-A0SD-01 | TCGA-A1-A0SD-01-10A-01D-A110-09 | G | G | NaN | NaN | NaN | NaN | Unknown | Unknown | Somatic | Phase_IV | Capture | NaN | 1.0 | dbGAP | Illumina GAIIx | low | 1.340 | A1591T | getma.org/?cm=msa&ty=f&p=COEA1_HUMAN&rb=1554&re=1614&var=A1591T | NaN | getma.org/?cm=var&var=hg19,8,121344960,G,A&fts=all | NaN | NaN | c.4771G>A | p.Ala1591Thr | p.A1591T | ENST00000297848 | 42/48 | 0.0 | . | . | 0.0 | . | . | COL14A1,missense_variant,p.Ala1591Thr,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Ala1496Thr,ENST00000247781,;COL14A1,missense_variant,p.Ala1591Thr,ENST00000309791,; | A | ENSG00000187955 | ENST00000297848 | Transcript | missense_variant | 5041/6466 | 4771/5391 | 1591/1796 | A/T | Gcc/Acc | rs370064596,COSM256674 | 1.0 | NaN | COL14A1 | HGNC | 2191.0 | protein_coding | YES | CCDS34938.1 | ENSP00000297848 | COEA1_HUMAN | NaN | UPI000046D377 | NM_021110.2 | tolerated(0.05) | benign(0.228) | 42/48 | NaN | hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,Pfam_domain:PF01391 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | A:0.0002 | A:0 | NaN | 0,1 | NaN | NaN | NaN | NaN | NaN | MODERATE | 1.0 | SNV | NaN | NaN | 0,1 | 1.0 | 0.000017 | NaN | 0.000092 | NaN | NaN | NaN | NaN | 0.000065 | 1.0 | . | 8 | 121344960 | 121344960 | G | A | SNP | COL14A1 | NM_021110 | human | genbank | 57_37b | +1 | validated | missense | c.4771 | p.A1591T | 0.997 | HMMPfam_Collagen | HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen | - | no_errors | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 8 | 121344960 | 121344960 | G | A | SNP | COL14A1 | NM_021110 | human | genbank | 57_37b | +1 | validated | missense | c.4771 | p.A1591T | 0.997 | HMMPfam_Collagen | HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen | - | no_errors |
| 7 | CPAMD8 | genome.wustl.edu | GRCh37 | 19 | 17008578 | 17008578 | -1 | Silent | SNP | G | G | C | rs2608732 | byCluster;byFrequency;bySubmitter;by2Hit2Allele;byHapMap;by1000genomes | TCGA-A1-A0SD-01 | TCGA-A1-A0SD-01-10A-01D-A110-09 | G | G | NaN | NaN | NaN | NaN | Unknown | Unknown | Somatic | Phase_IV | Capture | NaN | 1.0 | dbGAP | Illumina GAIIx | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | c.5130C>G | p.= | p.T1710T | ENST00000443236 | 39/42 | 0.0 | . | . | 0.0 | . | . | CPAMD8,synonymous_variant,p.=,ENST00000443236,NM_015692.2;CPAMD8,synonymous_variant,p.=,ENST00000594249,;CPAMD8,synonymous_variant,p.=,ENST00000599287,;CPAMD8,upstream_gene_variant,,ENST00000598792,;CPAMD8,upstream_gene_variant,,ENST00000597335,;CPAMD8,upstream_gene_variant,,ENST00000598547,;CPAMD8,upstream_gene_variant,,ENST00000602132,;CPAMD8,upstream_gene_variant,,ENST00000595323,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000601782,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000597709,;CPAMD8,upstream_gene_variant,,ENST00000600235,;CPAMD8,upstream_gene_variant,,ENST00000596224,;CPAMD8,upstream_gene_variant,,ENST00000596572,;CPAMD8,upstream_gene_variant,,ENST00000598104,;CPAMD8,upstream_gene_variant,,ENST00000593739,; | C | ENSG00000160111 | ENST00000443236 | Transcript | synonymous_variant | 5162/5992 | 5130/5799 | 1710/1932 | T | acC/acG | rs2608732,COSM438855 | 1.0 | NaN | CPAMD8 | HGNC | 23228.0 | protein_coding | YES | CCDS42519.1 | ENSP00000402505 | CPMD8_HUMAN | NaN | UPI0000E8AC99 | NM_015692.2 | NaN | NaN | 39/42 | NaN | hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF76,Superfamily_domains:SSF49410 | G:0.4351 | C:0.8064 | C:0.5879 | NaN | C:0.3016 | C:0.5368 | C:0.5225 | C:0.7611 | C:0.5335 | NaN | 0,1 | NaN | NaN | NaN | NaN | NaN | LOW | 1.0 | SNV | NaN | NaN | 0,1 | 1.0 | 0.467000 | 0.757000 | 0.550000 | 0.334 | 0.53000 | 0.540000 | 0.542 | 0.548000 | NaN | common_variant | 19 | 17008578 | 17008578 | G | C | SNP | CPAMD8 | ENST00000443236 | human | ensembl | 57_37b | -1 | known | missense | c.5162 | p.P1721R | 1.000 | superfamily_Alpha-macroglobulin receptor domain | HMMPfam_A2M_N,HMMPfam_A2M_N_2,HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_comp,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_recep,superfamily_Kazal-type serine protease inhibitors,HMMSmart_SM00280,HMMPfam_Kazal_1 | - | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 19 | 17008578 | 17008578 | G | C | SNP | CPAMD8 | ENST00000443236 | human | ensembl | 57_37b | -1 | known | missense | c.5162 | p.P1721R | 1.000 | superfamily_Alpha-macroglobulin receptor domain | HMMPfam_A2M_N,HMMPfam_A2M_N_2,HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_comp,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_recep,superfamily_Kazal-type serine protease inhibitors,HMMSmart_SM00280,HMMPfam_Kazal_1 | - | NaN |
| 8 | CPEB2 | genome.wustl.edu | GRCh37 | 4 | 15067943 | 15067943 | 1 | Missense_Mutation | SNP | A | A | G | novel | unknown | TCGA-A1-A0SD-01 | TCGA-A1-A0SD-01-10A-01D-A110-09 | A | A | NaN | NaN | NaN | NaN | Unknown | Unknown | Somatic | Phase_IV | Capture | NaN | 1.0 | dbGAP | Illumina GAIIx | medium | 2.920 | H570R | getma.org/?cm=msa&ty=f&p=CPEB2_HUMAN&rb=400&re=589&var=H570R | NaN | getma.org/?cm=var&var=hg19,4,15067943,A,G&fts=all | NaN | NaN | c.3044A>G | p.His1015Arg | p.H1015R | ENST00000538197 | 12/12 | 0.0 | . | . | 0.0 | . | . | CPEB2,missense_variant,p.His1015Arg,ENST00000538197,NM_001177382.1;CPEB2,missense_variant,p.His1007Arg,ENST00000541112,NM_182485.2;CPEB2,missense_variant,p.His988Arg,ENST00000442003,NM_001177381.1,NM_001177383.1;CPEB2,missense_variant,p.His578Arg,ENST00000259997,;CPEB2,missense_variant,p.His548Arg,ENST00000382395,;CPEB2,missense_variant,p.His543Arg,ENST00000382401,NM_001177384.1,NM_182646.2;CPEB2,missense_variant,p.His570Arg,ENST00000507071,;CPEB2,missense_variant,p.His540Arg,ENST00000345451,;CPEB2,downstream_gene_variant,,ENST00000509684,;RP11-665G4.1,non_coding_transcript_exon_variant,,ENST00000513384,;RP11-665G4.1,intron_variant,,ENST00000502344,; | G | ENSG00000137449 | ENST00000538197 | Transcript | missense_variant | 3044/6878 | 3044/3105 | 1015/1034 | H/R | cAt/cGt | COSM447470,COSM1485723 | 1.0 | NaN | CPEB2 | HGNC | 21745.0 | protein_coding | YES | CCDS56325.1 | ENSP00000443985 | NaN | J3KN18_HUMAN,H0Y9D9_HUMAN,F5H160_HUMAN | UPI0001D0434B | NM_001177382.1 | deleterious_low_confidence(0) | probably_damaging(0.999) | 12/12 | NaN | hmmpanther:PTHR12566 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 1,1 | NaN | NaN | NaN | NaN | NaN | MODERATE | 1.0 | SNV | NaN | NaN | 1,1 | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | . | 4 | 15067943 | 15067943 | A | G | SNP | CPEB2 | NM_182485 | human | genbank | 57_37b | +1 | reviewed | missense | c.1709 | p.H570R | 1.000 | NaN | superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 | - | no_errors | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 4 | 15067943 | 15067943 | A | G | SNP | CPEB2 | NM_182485 | human | genbank | 57_37b | +1 | reviewed | missense | c.1709 | p.H570R | 1.000 | NaN | superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 | - | no_errors |
| 9 | CSTL1 | genome.wustl.edu | GRCh37 | 20 | 23420938 | 23420938 | 1 | Silent | SNP | C | C | T | novel | unknown | TCGA-A1-A0SD-01 | TCGA-A1-A0SD-01-10A-01D-A110-09 | C | C | NaN | NaN | NaN | NaN | Unknown | Unknown | Somatic | Phase_IV | Capture | NaN | 1.0 | dbGAP | Illumina GAIIx | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | c.34C>T | p.= | p.L12L | ENST00000347397 | 2/4 | 0.0 | . | . | 0.0 | . | . | CSTL1,synonymous_variant,p.=,ENST00000347397,NM_138283.1;CSTL1,synonymous_variant,p.=,ENST00000246020,;CSTL1,non_coding_transcript_exon_variant,,ENST00000472140,;CSTL1,upstream_gene_variant,,ENST00000485969,; | T | ENSG00000125823 | ENST00000347397 | Transcript | synonymous_variant | 280/736 | 34/438 | 12/145 | L | Ctg/Ttg | COSM443546 | 1.0 | NaN | CSTL1 | HGNC | 15958.0 | protein_coding | YES | CCDS13153.1 | ENSP00000344907 | CST1L_HUMAN | NaN | UPI000003E836 | NM_138283.1 | NaN | NaN | 2/4 | NaN | Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF9 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 1 | NaN | NaN | NaN | NaN | NaN | LOW | 1.0 | SNV | NaN | NaN | 1 | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | . | 20 | 23420938 | 23420938 | C | T | SNP | CSTL1 | NM_138283 | human | genbank | 57_37b | +1 | reviewed | silent | c.34 | p.L12 | 0.954 | NaN | PatternScan_CYSTATIN,HMMSmart_CY,superfamily_SSF54403,HMMPfam_Cystatin | - | no_errors | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 20 | 23420938 | 23420938 | C | T | SNP | CSTL1 | NM_138283 | human | genbank | 57_37b | +1 | reviewed | silent | c.34 | p.L12 | 0.954 | NaN | PatternScan_CYSTATIN,HMMSmart_CY,superfamily_SSF54403,HMMPfam_Cystatin | - | no_errors |