Allowed Configuration Values
This is a reference list of allowed values for various configuration variables and attributes.
Booleans
yes
Yes
true
True
no
No
false
False
Gene effect types
3'UTR
3'UTR-intron
5'UTR
5'UTR-intron
frame-shift
intergenic
intron
missense
no-frame-shift
no-frame-shift-newStop
noEnd
noStart
non-coding
non-coding-intron
nonsense
splice-site
synonymous
CDS
CNV+
CNV-
Gene effect groups
This lists the valid gene effect groups and which effect types they encompass.
- Coding
Nonsense
Frame-shift
Splice-site
No-frame-shift-newStop
Missense
No-frame-shift
noStart
noEnd
Synonymous
- Noncoding
Non coding
Intron
Intergenic
3'-UTR
5'-UTR
- CNV
CNV+
CNV
- LGDs
Frame-shift
Nonsense
Splice-site
No-frame-shift-newStop
- Nonsynonymous
Nonsense
Frame-shift
Splice-site
No-frame-shift-newStop
Missense
No-frame-shift
noStart
noEnd
- UTRs
3'-UTR
5'-UTR
Sex
0
orU
orunspecified
1
orM
ormale
2
orF
orfemale
Inheritance
reference
mendelian
denovo
possible_denovo
omission
other
missing
unknown
Role
maternal_grandmother
maternal_grandfather
paternal_grandmother
paternal_grandfather
mom
dad
parent
prb
sib
child
maternal_half_sibling
paternal_half_sibling
half_sibling
maternal_aunt
maternal_uncle
paternal_aunt
paternal_uncle
maternal_cousin
paternal_cousin
step_mom
step_dad
spouse
unknown
Status
Unspecified values indicate unknown status.
0
: unknown1
: unaffected2
: affected
VariantType
sub
orsubstitution
ins
orinsertion
del
ordeletion
complex
CNV