splicing_outlier_RV_format.md

This is the format of the file created by splicing_outlier_genes_with_RV_window.sh

• chr: junction chromosome
• junc_start: jcuntion start
• junc_end: junction end
• gene: gene name
• annotation_status: A/NA Annotated/Non-annotated
• variable: Sample_ID
• value: Zscore
• absZ: Absolute Z-score
• status: Case/Control - Affected Status
• chr_var: chromosome of the variant
• start_var: start position of the variant
• end_var: end position of the variant
• ref_var: reference allele of the variant
• alt_var: alternate allele of the variant
• gnomAD_AF: gnomAD allele frequency
• raw_cadd: CADD score (raw)
• phred_cadd: CADD score (phred)
• chr_gene: chromosome of gene
• start_gene: start gene
• end_gene: end gene
• gene_name: gene name