Column
|
Notes
|
Chromosome
|
Chromosome name (usually without any leading 'chr' string)
|
Position
|
One based position
|
Reference
|
Reference
|
Change
|
Sequence change
|
Change type
|
Type of change (SNP, MNP, INS, DEL)
|
Homozygous
|
Is this homozygous or heterozygous (Hom, Het)
|
Quality
|
Quality score (from input file)
|
Coverage
|
Coverage (from input file)
|
Warnings
|
Any warnings or errors.
|
Gene_ID
|
Gene ID (usually ENSEMBL)
|
Gene_name
|
Gene name
|
Bio_type
|
BioType, as reported by ENSEMBL.
|
Trancript_ID
|
Transcript ID (usually ENSEMBL)
|
Exon_ID
|
Exon ID (usually ENSEMBL)
|
Exon_Rank
|
Exon number on a transcript
|
Effect
|
Effect of this variant. See details below.
|
old_AA/new_AA
|
Amino acid change
|
old_codon/new_codon
|
Codon change
|
Codon_Num(CDS)
|
Codon number in CDS
|
Codon_degenaracy
|
Codon degenaracy
|
CDS_size
|
CDS size in bases
|
| Custom_interval_ID |
If any custom interval was used, add the IDs here (may be more than one). |
