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misplice.example.maf
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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 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 STRAND 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 COSMIC CENTERS CONTEXT DBVS NCALLERS
TACC2 0 . GRCh37 10 123810032 123810032 + Missense_Mutation SNP C C T rs540521848 . TCGA-02-0003-01A-01D-1490-08 TCGA-02-0003-10A-01D-1490-08 C C . . . . . . . . . . . . . . . c.113C>T p.Thr38Met p.T38M ENST00000369005 3/23 43 4 38 74 74 0 TACC2,missense_variant,p.Thr38Met,ENST00000358010,;TACC2,missense_variant,p.Thr38Met,ENST00000453444,;TACC2,missense_variant,p.Thr38Met,ENST00000513429,;TACC2,missense_variant,p.Thr55Met,ENST00000491540,;TACC2,missense_variant,p.Thr38Met,ENST00000369005,;TACC2,missense_variant,p.Thr38Met,ENST00000334433,;TACC2,missense_variant,p.Thr38Met,ENST00000515603,;TACC2,missense_variant,p.Thr38Met,ENST00000515273,;TACC2,non_coding_transcript_exon_variant,,ENST00000498721,;TACC2,non_coding_transcript_exon_variant,,ENST00000492689,; T ENSG00000138162 ENST00000369005 Transcript missense_variant 453 113 38 T/M aCg/aTg rs540521848,COSM465374,COSM2148937 . . 1 TACC2 HGNC 11523 protein_coding YES CCDS7626.1 ENSP00000358001 TACC2_HUMAN . UPI0000246F6B . . benign(0.335) 3/23 . . T:0.0002 T:0 T:0.0014 . T:0 T:0 T:0 . . . 0,1,1 . . . . . MODERATE . SNV . . 0,1,1 . . . . . . . . . . PASS SITE|p.T38M|c.113C>T|3 MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS GGACACGCCCG by1000G 5
JAKMIP3 0 . GRCh37 10 133967449 133967449 + Silent SNP C C T rs763531628 . TCGA-02-0003-01A-01D-1490-08 TCGA-02-0003-10A-01D-1490-08 C C . . . . . . . . . . . . . . . c.2169C>T p.%3D p.D723D ENST00000298622 18/24 82 16 65 123 123 0 JAKMIP3,synonymous_variant,p.%3D,ENST00000298622,;JAKMIP3,non_coding_transcript_exon_variant,,ENST00000477275,; T ENSG00000188385 ENST00000298622 Transcript synonymous_variant 2307 2169 723 D gaC/gaT rs763531628,COSM2148890 . . 1 JAKMIP3 HGNC 23523 protein_coding YES CCDS44494.1 ENSP00000298622 JKIP3_HUMAN . UPI000157482F . . . 18/24 . hmmpanther:PTHR18935:SF5,hmmpanther:PTHR18935 . . . . . . . . . . 0,1 . . . . . LOW . SNV . . 0,1 . . . . . . . . . . PASS NONE MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS CTGGACGAGGA byFrequency 5