Gene_Symbol: | Gene symbol affected by the SAV |
Sample_Name: | Samples having the SAV |
Mutation_Key: | {chromosome},{position},{reference allele},{alternative allele} |
Motif_Pos: | The position of disrupted or newly created splicing motif ({chromosome}:{start}-{end}) |
Mutation_Type: | Donor disruption, Acceptor disruption, Donor creation or Acceptor creation |
Is_Canonical: | Whether the SAV is affecting GT-AG canonical splicing motif, or not |
Splicing_Key: | The position of splicing junction (for Exon-skipping, Alternative 5’SS and Alternative 3’SS), or exon-intron boundary (for Intron retention) |
Is_Inframe: | Whether the new transcript generated by the SAV is inferred to be in-frame or not (non applicable for intron retention) |
Supporting_Read_Num: |
| The number of supporting reads for the transcript associated by the SAV |
Score: | The Averaged Bayes Factor for the SAV |
Q_Value: | Estimated false positive ratio by permutation |