Toggle navigation
Mendel,MD
Upload a VCF
Dashboard
1-Click
Options
Individuals
Diseases
Genes
Tools
1-Click
Filter Analysis
Family Analysis
Comparison
Docs
Forum
Sign in
+ Filter Options
Main
Variants
Databases
MUTATION TYPE:
HOMOZYGOUS (Ex. 1/1, 2/1, 1/2)
HETEROZYGOUS (Ex. 0/1, 0/2, 1/0, 2/0)
CHR:
POS:
.
PASS
VARIANT EFFECT
FUNCTIONAL CLASS
IMPACT
CDS
CHROMOSOME LARGE DELETION
CODON CHANGE
CODON INSERTION
CODON CHANGE PLUS CODON INSERTION
CODON DELETION
CODON CHANGE PLUS CODON DELETION
DOWNSTREAM
EXON
EXON DELETED
FRAME SHIFT
GENE
INTERGENIC
INTERGENIC CONSERVED
INTRAGENIC
INTRON
INTRON CONSERVED
MICRO RNA
NON SYNONYMOUS CODING
NON SYNONYMOUS START
NON SYNONYMOUS STOP
RARE AMINO ACID
SPLICE SITE ACCEPTOR
SPLICE SITE DONOR
SPLICE SITE REGION
SPLICE SITE BRANCH
SPLICE SITE BRANCH U12
STOP LOST
START GAINED
START LOST
STOP GAINED
SYNONYMOUS CODING
SYNONYMOUS START
SYNONYMOUS STOP
TRANSCRIPT
REGULATION
UPSTREAM
UTR 3 PRIME
UTR 3 DELETED
UTR 5 PRIME
UTR 5 DELETED
NONE
SILENT
MISSENSE
NONSENSE
HIGH
MODERATE
MODIFIER
LOW
DBSNP BUILD:
<=
>=
=
EXCLUDE VARIANTS AT VARISNP
READ DEPTH:
<=
>=
=
QUAL:
<=
>=
=
VARIANTS PER GENE:
<=
>=
=
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD
FREQUENCIES
1000 GENOMES FREQUENCY
EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY
EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY
EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT
SCORES
SIFT SCORE
EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE
EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD
EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP
EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER
+ Genes
Genes:
+ Genes associated with diseases
Genes at Omim
Genes at Clinical Genomics Database
Genes at HGMD