Effect
|
Note
|
INTERGENIC
|
The variant is in an intergenic region
|
UPSTREAM
|
Upstream of a gene (default length: 5K bases)
|
UTR_5_PRIME
|
Variant hits 5′UTR region
|
UTR_5_DELETED
|
The variant deletes an exon which is in the 5′UTR of the transcript
|
START_GAINED
|
A variant in 5′UTR region produces a three base sequence that can be a START codon.
|
SPLICE_SITE_ACCEPTOR
|
The variant hits a splice acceptor site (defined as two bases before exon start, except for the first exon).
|
SPLICE_SITE_DONOR
|
The variant hits a Splice donor site (defined as two bases after coding exon end, except for the last exon).
|
START_LOST
|
Variant causes start codon to be mutated into a non-start codon.
|
SYNONYMOUS_START
|
Variant causes start codon to be mutated into another start codon.
|
CDS
|
The variant hits a CDS.
|
GENE
|
The variant hits a gene.
|
TRANSCRIPT
|
The variant hits a transcript.
|
EXON
|
The vairant hist an exon.
|
EXON_DELETED
|
A deletion removes the whole exon.
|
NON_SYNONYMOUS_CODING
|
Variant causes a codon that produces a different amino acid
|
SYNONYMOUS_CODING
|
Variant causes a codon that produces the same amino acid
|
FRAME_SHIFT
|
Insertion or deletion causes a frame shift
|
CODON_CHANGE
|
One or many codons are changed
|
CODON_INSERTION
|
One or many codons are inserted
|
CODON_CHANGE_PLUS_CODON_INSERTION
|
One codon is changed and one or many codons are inserted
|
CODON_DELETION
|
One or many codons are deleted
|
CODON_CHANGE_PLUS_CODON_DELETION
|
One codon is changed and one or more codons are deleted
|
STOP_GAINED
|
Variant causes a STOP codon
|
SYNONYMOUS_STOP
|
Variant causes stop codon to be mutated into another stop codon.
|
STOP_LOST
|
Variant causes stop codon to be mutated into a non-stop codon
|
INTRON
|
Variant hist and intron. Technically, hits no exon in the transcript.
|
UTR_3_PRIME
|
Variant hits 3′UTR region
|
UTR_3_DELETED
|
The variant deletes an exon which is in the 3′UTR of the transcript
|
DOWNSTREAM
|
Downstream of a gene (default length: 5K bases)
|
INTRON_CONSERVED
|
The variant is in a highly conserved intronic region
|
INTERGENIC_CONSERVED |
The variant is in a highly conserved intergenic region |