v100.40.0+ filter list
This page documents all filters available in Analyze v100.40.0 and newer:
For an explanation of the Type column, see Filter types below.
Filter types
On/off
A binary filter that exposes only one selectable Boolean value (True or False). Selecting the available value enables the filter.
Variants are included if they meet the predefined filter condition.
Examples:
Variants in targeted regions: True → Variants located in targeted regions are included.
Display polymorphism: False → Variants with allele frequency > 0.05 are filtered out.
Quality filters
For an explanation of the Type column, see Filter types.
Allele Bias
Allele distribution range of a variant.
range
Alternate Read
Minimum number of reads supporting the alternate allele.
integer
Bin Count
Bin count of a variant. Applies only to CNVs.
integer
Calling Methodology
Calling method used for detection.
multi-select
Depth
Read depth at the variant position.
integer
EMG Base Quality
Base quality score of the variant.
integer
EMG Copy Number
Copy number of a variant. Applies to CNV types.
integer
EMG Genotype Quality
Genotype quality score of the variant.
integer
EMG Mapping Quality
Mapping quality score of the variant.
integer
HML
Variants in a homology region flagged by the DRAGEN variant caller.
on/off
Mapping Quality
Mapping quality (MQ) of the variant.
integer
MNP
Variants with the MNP flag.
on/off
Mosaic
Variants with the Mosaic tag from the DRAGEN variant caller.
on/off
Quality
Overall quality of the variant.
multi-select
SV Length
Variant length. Applies only to SVs.
range
Variant Callers Number
Number of variant callers that detected the variant.
integer
VCF Filter
`FILTER` column value in the VCF.
multi-select
Polymorphism filters
For an explanation of the Type column, see Filter types.
1000 Genomes | AC
Allele count for the variant in the 1000 Genomes population dataset.
integer
1000 Genomes | AF
Allele frequency of the variant in the 1000 Genomes population dataset.
number
All Databases | AC
Total allele count across population databases.
integer
All Databases | AF
Maximum allele frequency observed across population databases, excluding gnomAD Other.
number
All Databases | Hom/Hemi
Total homozygous and hemizygous count across population databases.
integer
Decipher Healthy Pop | AC
Allele count in the Decipher healthy population dataset.
integer
Decipher Healthy Pop | AF
Allele frequency in the Decipher healthy population dataset.
number
DGV SV Gold | AC
Allele count from the DGV Gold structural variant dataset.
integer
DGV SV Gold | AF
Allele frequency from the DGV Gold structural variant dataset.
number
Emedgene DB | AF
Allele frequency from Emedgene’s internal variant database.
number
ExAC | AC
Allele count in the ExAC population dataset.
integer
ExAC | AF
Allele frequency in the ExAC population dataset.
number
ExAC | Hom/Hemi
Total homozygous and hemizygous count in the ExAC dataset.
integer
Display Polymorphism
Polymorphic variants with allele frequency greater than 5%.
on/off
GME AC
Allele count in the Greater Middle Eastern Variome dataset.
integer
GME AF
Allele frequency in the Greater Middle Eastern Variome dataset.
number
GME Hom/Hemi
Total homozygous and hemizygous count in the GME dataset.
integer
gnomAD Combined AC
Total allele count across all gnomAD sub-populations.
integer
gnomAD Combined AF
Combined allele frequency across all gnomAD sub-populations.
number
gnomAD Combined Hemi
Total hemizygous count across gnomAD populations.
integer
gnomAD Combined Hom
Total homozygous count across gnomAD populations.
integer
gnomAD Combined HomHemi
Total homozygous and hemizygous count across gnomAD populations.
integer
gnomAD Exome AC
Total allele count in the gnomAD Exome dataset.
integer
gnomAD Exome AC AFR
Allele count in the gnomAD Exome database for the AFR (African / African-American) sub-population.
integer
gnomAD Exome AC AMR
Allele count in the gnomAD Exome database for the AMR (Latino / Admixed American) sub-population.
integer
gnomAD Exome AC ASJ
Allele count in the gnomAD Exome database for the ASJ (Ashkenazi Jewish) sub-population.
integer
gnomAD Exome AC EAS
Allele count in the gnomAD Exome database for the EAS (East Asian) sub-population.
integer
gnomAD Exome AC FIN
Allele count in the gnomAD Exome database for the FIN (Finnish) sub-population.
integer
gnomAD Exome AC MID
Allele count in the gnomAD Exome database for the MID (Middle Eastern) sub-population.
integer
gnomAD Exome AC NFE
Allele count in the gnomAD Exome database for the NFE (Non-Finnish European) sub-population.
integer
gnomAD Exome AC OTH
Allele count in the gnomAD Exome database for the OTH (Other) sub-population.
integer
gnomAD Exome AC SAS
Allele count in the gnomAD Exome database for the SAS (South Asian) sub-population.
integer
gnomAD Exome AF
Total allele frequency in the gnomAD Exome database across all sub-populations.
number
gnomAD Exome AF AFR
Allele frequency in the gnomAD Exome database for the AFR (African / African-American) sub-population.
number
gnomAD Exome AF AMR
Allele frequency in the gnomAD Exome database for the AMR (Latino / Admixed American) sub-population.
number
gnomAD Exome AF ASJ
Allele frequency in the gnomAD Exome database for the ASJ (Ashkenazi Jewish) sub-population.
number
gnomAD Exome AF EAS
Allele frequency in the gnomAD Exome database for the EAS (East Asian) sub-population.
number
gnomAD Exome AF FIN
Allele frequency in the gnomAD Exome database for the FIN (Finnish) sub-population.
number
gnomAD Exome AF MID
Allele frequency in the gnomAD Exome database for the MID (Middle Eastern) sub-population.
number
gnomAD Exome AF NFE
Allele frequency in the gnomAD Exome database for the NFE (Non-Finnish European) sub-population.
number
gnomAD Exome AF OTH
Allele frequency in the gnomAD Exome database for the OTH (Other) sub-population.
number
gnomAD Exome AF SAS
Allele frequency in the gnomAD Exome database for the SAS (South Asian) sub-population.
number
gnomAD Exome AN
Total allele number in the gnomAD Exome dataset.
integer
gnomAD Exome AN AFR
Allele number in the gnomAD Exome database for the AFR (African / African-American) sub-population.
integer
gnomAD Exome AN AMR
Allele number in the gnomAD Exome database for the AMR (Latino / Admixed American) sub-population.
integer
gnomAD Exome AN ASJ
Allele number in the gnomAD Exome database for the ASJ (Ashkenazi Jewish) sub-population.
integer
gnomAD Exome AN EAS
Allele number in the gnomAD Exome database for the EAS (East Asian) sub-population.
integer
gnomAD Exome AN FIN
Allele number in the gnomAD Exome database for the FIN (Finnish) sub-population.
integer
gnomAD Exome AN MID
Allele number in the gnomAD Exome database for the MID (Middle Eastern) sub-population.
integer
gnomAD Exome AN NFE
Allele number in the gnomAD Exome database for the NFE (Non-Finnish European) sub-population.
integer
gnomAD Exome AN OTH
Allele number in the gnomAD Exome database for the OTH (Other) sub-population.
integer
gnomAD Exome AN SAS
Allele number in the gnomAD Exome database for the SAS (South Asian) sub-population.
integer
gnomAD Exome Hemi
Total hemizygous count in the gnomAD Exome dataset across all populations.
integer
gnomAD Exome Hemi AFR
Hemizygous count in the AFR (African / African-American) sub-population in the gnomAD Exome dataset.
integer
gnomAD Exome Hemi AMR
Hemizygous count in the AMR (Latino / Admixed American) sub-population in the gnomAD Exome dataset.
integer
gnomAD Exome Hemi ASJ
Hemizygous count in the ASJ (Ashkenazi Jewish) sub-population in the gnomAD Exome dataset.
integer
gnomAD Exome Hemi EAS
Hemizygous count in the EAS (East Asian) sub-population in the gnomAD Exome dataset.
integer
gnomAD Exome Hemi FIN
Hemizygous count in the FIN (Finnish) sub-population in the gnomAD Exome dataset.
integer
gnomAD Exome Hemi MID
Hemizygous count in the MID (Middle Eastern) sub-population in the gnomAD Exome dataset.
integer
gnomAD Exome Hemi NFE
Hemizygous count in the NFE (Non-Finnish European) sub-population in the gnomAD Exome dataset.
integer
gnomAD Exome Hemi OTH
Number of individuals with hemizygous state in the gnomAD Exome database for the OTH (Other) sub-population.
integer
gnomAD Exome Hemi SAS
Number of individuals with hemizygous state in the gnomAD Exome database for the SAS (South Asian) sub-population.
integer
gnomAD Exome Hom
Total number of homozygous individuals in the gnomAD Exome dataset.
integer
gnomAD Exome Hom AFR
Number of individuals with homozygous state in the gnomAD Exome database for the AFR (African / African-American) sub-population.
integer
gnomAD Exome Hom AMR
Number of individuals with homozygous state in the gnomAD Exome database for the AMR (Latino / Admixed American) sub-population.
integer
gnomAD Exome Hom ASJ
Number of individuals with homozygous state in the gnomAD Exome database for the ASJ (Ashkenazi Jewish) sub-population.
integer
gnomAD Exome Hom EAS
Number of individuals with homozygous state in the gnomAD Exome database for the EAS (East Asian) sub-population.
integer
gnomAD Exome Hom FIN
Number of individuals with homozygous state in the gnomAD Exome database for the FIN (Finnish) sub-population.
integer
gnomAD Exome Hom MID
Number of individuals with homozygous state in the gnomAD Exome database for the MID (Middle Eastern) sub-population.
integer
gnomAD Exome Hom NFE
Number of individuals with homozygous state in the gnomAD Exome database for the NFE (Non-Finnish European) sub-population.
integer
gnomAD Exome Hom OTH
Number of individuals with homozygous state in the gnomAD Exome database for the OTH (Other) sub-population.
integer
gnomAD Exome Hom SAS
Number of individuals with homozygous state in the gnomAD Exome database for the SAS (South Asian) sub-population.
integer
gnomAD Genome AC
Total allele count in the Genome Aggregation Database genome dataset across all sub-populations.
integer
gnomAD Genome AC AFR
Allele count in the gnomAD Genome database for the AFR (African / African-American) sub-population.
integer
gnomAD Genome AC AMI
Allele count in the gnomAD Genome database for the AMI (Amish) sub-population.
integer
gnomAD Genome AC AMR
Allele count in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.
integer
gnomAD Genome AC ASJ
Allele count in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.
integer
gnomAD Genome AC EAS
Allele count in the gnomAD Genome database for the EAS (East Asian) sub-population.
integer
gnomAD Genome AC FIN
Allele count in the gnomAD Genome database for the FIN (Finnish) sub-population.
integer
gnomAD Genome AC MID
Allele count in the gnomAD Genome database for the MID (Middle Eastern) sub-population.
integer
gnomAD Genome AC NFE
Allele count in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.
integer
gnomAD Genome AC OTH
Allele count in the gnomAD Genome database for the OTH (Other) sub-population.
integer
gnomAD Genome AC SAS
Allele count in the gnomAD Genome database for the SAS (South Asian) sub-population.
integer
gnomAD Genome AF
Total allele frequency in the Genome Aggregation Database genome dataset across all sub-populations.
number
gnomAD Genome AF AFR
Allele frequency in the gnomAD Genome database for the AFR (African / African-American) sub-population.
number
gnomAD Genome AF AMI
Allele frequency in the gnomAD Genome database for the AMI (Amish) sub-population.
number
gnomAD Genome AF AMR
Allele frequency in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.
number
gnomAD Genome AF ASJ
Allele frequency in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.
number
gnomAD Genome AF EAS
Allele frequency in the gnomAD Genome database for the EAS (East Asian) sub-population.
number
gnomAD Genome AF FIN
Allele frequency in the gnomAD Genome database for the FIN (Finnish) sub-population.
number
gnomAD Genome AF MID
Allele frequency in the gnomAD Genome database for the MID (Middle Eastern) sub-population.
number
gnomAD Genome AF NFE
Allele frequency in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.
number
gnomAD Genome AF OTH
Allele frequency in the gnomAD Genome database for the OTH (Other) sub-population.
number
gnomAD Genome AF SAS
Allele frequency in the gnomAD Genome database for the SAS (South Asian) sub-population.
number
gnomAD Genome AN
Total allele number in the Genome Aggregation Database genome dataset across all sub-populations.
integer
gnomAD Genome AN AFR
Allele number in the gnomAD Genome database for the AFR (African / African-American) sub-population.
integer
gnomAD Genome AN AMI
Allele number in the gnomAD Genome database for the AMI (Amish) sub-population.
integer
gnomAD Genome AN AMR
Allele number in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.
integer
gnomAD Genome AN ASJ
Allele number in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.
integer
gnomAD Genome AN EAS
Allele number in the gnomAD Genome database for the EAS (East Asian) sub-population.
integer
gnomAD Genome AN FIN
Allele number in the gnomAD Genome database for the FIN (Finnish) sub-population.
integer
gnomAD Genome AN MID
Allele number in the gnomAD Genome database for the MID (Middle Eastern) sub-population.
integer
gnomAD Genome AN NFE
Allele number in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.
integer
gnomAD Genome AN OTH
Allele number in the gnomAD Genome database for the OTH (Other) sub-population.
integer
gnomAD Genome AN SAS
Allele number in the gnomAD Genome database for the SAS (South Asian) sub-population.
integer
gnomAD Genome Hemi
Total number of individuals with hemizygous state in the Genome Aggregation Database genome dataset across all sub-populations.
integer
gnomAD Genome Hemi AFR
Number of individuals with hemizygous state in the gnomAD Genome database for the AFR (African / African-American) sub-population.
integer
gnomAD Genome Hemi AMI
Number of individuals with hemizygous state in the gnomAD Genome database for the AMI (Amish) sub-population.
integer
gnomAD Genome Hemi AMR
Number of individuals with hemizygous state in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.
integer
gnomAD Genome Hemi ASJ
Number of individuals with hemizygous state in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.
integer
gnomAD Genome Hemi EAS
Number of individuals with hemizygous state in the gnomAD Genome database for the EAS (East Asian) sub-population.
integer
gnomAD Genome Hemi FIN
Number of individuals with hemizygous state in the gnomAD Genome database for the FIN (Finnish) sub-population.
integer
gnomAD Genome Hemi MID
Number of individuals with hemizygous state in the gnomAD Genome database for the MID (Middle Eastern) sub-population.
integer
gnomAD Genome Hemi NFE
Number of individuals with hemizygous state in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.
integer
gnomAD Genome Hemi OTH
Number of individuals with hemizygous state in the gnomAD Genome database for the OTH (Other) sub-population.
integer
gnomAD Genome Hemi SAS
Number of individuals with hemizygous state in the gnomAD Genome database for the SAS (South Asian) sub-population.
integer
gnomAD Genome Hom
Total number of individuals with homozygous state in the Genome Aggregation Database genome dataset across all sub-populations.
integer
gnomAD Genome Hom AFR
Number of individuals with homozygous state in the gnomAD Genome database for the AFR (African / African-American) sub-population.
integer
gnomAD Genome Hom AMI
Number of individuals with homozygous state in the gnomAD Genome database for the AMI (Amish) sub-population.
integer
gnomAD Genome Hom AMR
Number of individuals with homozygous state in the gnomAD Genome database for the AMR (Latino / Admixed American) sub-population.
integer
gnomAD Genome Hom ASJ
Number of individuals with homozygous state in the gnomAD Genome database for the ASJ (Ashkenazi Jewish) sub-population.
integer
gnomAD Genome Hom EAS
Number of individuals with homozygous state in the gnomAD Genome database for the EAS (East Asian) sub-population.
integer
gnomAD Genome Hom FIN
Number of individuals with homozygous state in the gnomAD Genome database for the FIN (Finnish) sub-population.
integer
gnomAD Genome Hom MID
Number of individuals with homozygous state in the gnomAD Genome database for the MID (Middle Eastern) sub-population.
integer
gnomAD Genome Hom NFE
Number of individuals with homozygous state in the gnomAD Genome database for the NFE (Non-Finnish European) sub-population.
integer
gnomAD Genome Hom OTH
Number of individuals with homozygous state in the gnomAD Genome database for the OTH (Other) sub-population.
integer
gnomAD Genome Hom SAS
Number of individuals with homozygous state in the gnomAD Genome database for the SAS (South Asian) sub-population.
integer
gnomAD SV AC
Allele count in the gnomAD SV (structural variants) database.
integer
gnomAD SV AF
Allele frequency in the gnomAD SV (structural variants) database.
number
gnomAD SV AFR AC
Allele count in the AFR (African / African-American) sub-population of the gnomAD SV dataset.
integer
gnomAD SV AFR AF
Allele frequency in the AFR (African / African-American) sub-population of the gnomAD SV dataset.
number
gnomAD SV AFR AN
Allele number in the AFR (African / African-American) sub-population of the gnomAD SV dataset.
integer
gnomAD SV AFR N HOMALT
Number of homozygous individuals in the AFR (African / African-American) sub-population of the gnomAD SV dataset.
integer
gnomAD SV AMR AC
Allele count in the AMR (Admixed American) sub-population of the gnomAD SV dataset.
integer
gnomAD SV AMR AF
Allele frequency in the AMR (Admixed American) sub-population of the gnomAD SV dataset.
number
gnomAD SV AMR AN
Allele number in the AMR (Admixed American) sub-population of the gnomAD SV dataset.
integer
gnomAD SV AMR N HOMALT
Number of homozygous individuals in the AMR (Admixed American) sub-population of the gnomAD SV dataset.
integer
gnomAD SV AN
Total number of alleles assessed for the structural variant site in the gnomAD SV dataset.
integer
gnomAD SV EAS AC
Allele count in the EAS (East Asian) sub-population of the gnomAD SV dataset.
integer
gnomAD SV EAS AF
Allele frequency in the EAS (East Asian) sub-population of the gnomAD SV dataset.
number
gnomAD SV EAS AN
Allele number in the EAS (East Asian) sub-population of the gnomAD SV dataset.
integer
gnomAD SV EAS N HOMALT
Number of homozygous individuals in the EAS (East Asian) sub-population of the gnomAD SV dataset.
integer
gnomAD SV EUR AC
Allele count in the EUR (European non-Finnish) sub-population of the gnomAD SV dataset.
integer
gnomAD SV EUR AF
Allele frequency in the EUR (European non-Finnish) sub-population of the gnomAD SV dataset.
number
gnomAD SV EUR AN
Allele number in the EUR (European non-Finnish) sub-population of the gnomAD SV dataset.
integer
gnomAD SV EUR N HOMALT
Number of homozygous individuals in the EUR (European non-Finnish) sub-population of the gnomAD SV dataset.
integer
gnomAD SV N HOMALT
Total number of homozygous individuals in the gnomAD SV dataset across all populations.
integer
gnomAD SV OTH AC
Allele count in the OTH (Other remaining) sub-population of the gnomAD SV dataset.
integer
gnomAD SV OTH AF
Allele frequency in the OTH (Other remaining) sub-population of the gnomAD SV dataset.
number
gnomAD SV OTH AN
Allele number in the OTH (Other remaining) sub-population of the gnomAD SV dataset.
integer
gnomAD SV OTH N HOMALT
Number of homozygous individuals in the OTH (Other remaining) sub-population of the gnomAD SV dataset.
integer
Mitomap Pop AC
Allele count of the mtDNA variant in the MITOMAP database.
integer
Mitomap Pop AF
Allele frequency of the mtDNA variant in the MITOMAP database.
number
Mitomap Pop AN
Total allele number at the variant site in the MITOMAP database.
integer
Variant type filters
For an explanation of the Type column, see Filter types.
Variant type
Variant type.
multi-select
Variant effect filters
For an explanation of the Type column, see Filter types.
ACMG Classification
ACMG pathogenicity category.
multi-select
ClinVar Known Variants
ClinVar classification.
multi-select
Curate
Existing Curate pathogenicity classification.
multi-select
Drug Response Variants
Variants known to influence drug response.
on/off
GnomAD-STR
Filter STR variants by the pathogenicity class defined in the gnomAD-STR dataset for the variant’s alternate repeat number.
multi-select
Known Pathogenic Variants
Variants classified as pathogenic or likely pathogenic in public or private variant databases.
on/off
Known Variants
Variants that have been curated in public or private variant databases.
on/off
Main Effect
Specific functional effect or VEP consequence.
multi-select
Main Severity
Main severity of the variant.
multi-select
In silico prediction filters
For an explanation of the Type column, see Filter types.
CADD Phred
CADD Phred score indicating predicted variant deleteriousness.
integer
Conservation
Aggregated conservation category, such as High or Moderate.
multi-select
GERP RS
GERP RS conservation score for the variant.
number
Missense Prediction
Predicted missense impact of the variant.
multi-select
PLI
Gene pLI score.
number
PrimateAI3D Prediction
PrimateAI3D prediction value for the variant.
multi-select
PrimateAI3D Score
PrimateAI3D prediction score for the variant.
number
REVEL Score
REVEL score for the variant.
number
Splice Prediction
Overall splice prediction for the variant.
multi-select
SpliceAI DS AG
SpliceAI DS AG score of the variant.
number
SpliceAI DS AL
SpliceAI DS AL score of the variant.
number
SpliceAI DS DG
SpliceAI DS DG score of the variant.
number
SpliceAI DS DL
SpliceAI DS DL score of the variant.
number
Z missense
Variants with a z-missense score for the gene.
number
Gene filters
For an explanation of the Type column, see Filter types.
All ACMG Genes
Variants in genes defined as clinically actionable by ACMG.
on/off
All Disease Associated Genes
Variants in genes with known disease associations.
on/off
All Unknown Genes
Variants in genes without established disease associations.
on/off
Cancer Associated Genes
Variants in genes associated with cancer.
on/off
Candidate Genes
Variants in genes included in the gene list defined during case creation.
on/off
Cardiovascular Genes
Variants in genes associated with cardiovascular disease.
on/off
Coding Regions
Variants in known protein-coding regions.
true/false
Drug Response Genes
Variants in genes implicated in drug response.
on/off
Established HI/TS Genes
Variants in genes with known haploinsufficiency or triplosensitivity.
multi-select
Imprinted Genes
Variants in genes known to be associated with imprinted disorders.
on/off
In Targeted Regions
Variants in enrichment kit regions selected during case creation. Falls back to RefSeq coding if no kit is provided.
on/off
LoF Genes
Variants in loss-of-function (LoF) genes with gnomAD pLI ≥ 0.9.
on/off
Phenomatch filters
For an explanation of the Type column, see Filter types.
Phenomatch - High Specificity
Variants in genes linked to diseases with phenotypes that exactly match the proband phenotypes.
on/off
Phenomatch - Powered by AI
Variants in genes with loose phenotype similarity to the patient’s HPO terms.
on/off
Phenomatch with Unknown
Variants in genes of unknown significance that have indirect associations with proband's phenotype.
on/off
Phenomeld
Variants in genes returned by the Phenomeld model.
on/off
Phenomeld Threshold
Phenomeld score of the variant.
number
Inheritance filters
For an explanation of the Type column, see Filter types.
Autosomal Dominant
Variants with autosomal dominant inheritance.
true/false
Autosomal Recessive - Homozygotes
Variants with autosomal recessive homozygous inheritance.
true/false
De Novo Dominant
Variants with de novo dominant inheritance.
true/false
Display No Coverage
Variants without sequencing coverage.
on/off
X-Linked Dominant
Variants with X-linked dominant inheritance.
true/false
X-Linked Recessive
Variants with X-linked recessive inheritance.
true/false
Phased
Variants with phased genotype.
true/false
Phasing
Phased genotype:
A: ALT allele is on haplotype 1 (GT =1|0)B: ALT allele is on haplotype 2 (GT =0|1)AB: ALT allele is on both haplotypes (GT =1|1)
Applies to variants with TruPath Genome phasing data.
multi-select
Phasing group
Numeric phase block identifier.
Applies to variants with TruPath Genome phasing data.
integer
Zygosity filters
For an explanation of the Type column, see Filter types.
Zygosity
Zygosity of the proband, parents, and other samples.
multi-select
Evidence & Tags filters
For an explanation of the Type column, see Filter types.
AI Shortlist
Variants tagged by Emedgene’s AI Shortlist model.
multi-select
Manually added variants
Variants added manually in the case.
true/false
Manually Classified Variants
Variants with established pathogenicity in prior cases.
multi-select
Pathogenicity
Variants with user-assigned pathogenicity.
multi-select
Pathogenicity Tag
Variants with a Pathogenicity tag.
on/off
Submitted for Sanger confirmation
Variants for which Sanger Confirmation is marked True.
on/off
User tags
Variants tagged by users.
multi-select
Variant Interpretation
Variants with an automatically added or user-added Variant Interpretation.
on/off
Viewed
Variants that you have viewed (true) or not viewed (false).
true/false
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