These are the results of your analysis. The following are the entered parameters. The main results includes the lists of variants which are most probably explaining the patient's case for the different inheritance models. The additional results are provided to have a further understanding of the uploaded genetic profile.
Job ID: examples/1517238827144, received at Monday 29th of January 2018 12:16:49 PM (GMT-3)
Email address: firstname.lastname@example.org
VCF file: schinzel_giedion-original.vcf
Observed symptoms: Anteverted nares; Coarse facial features; Cognitive impairment;
Suspected disease: -None-
Complementary findings: Hypertonia; Hypertelorism;
Minor allele frequency threshold for the recessive model: 0.001 (0.1%)
Minor allele frequency threshold for the dominant model: Not observed
Genes of your specific interest: CTBP2
Filter applied: Non Synonymous / Splicing, not present in gnomAD or with a frequency < 0.1%, and has two or more variants in a gene selected by the disease and phenotype terms
Filter applied: Non Synonymous / Splicing, not present in gnomAD, and has one or more variants in a gene selected by the disease and phenotype terms
Download an enriched VCF file with all the uploaded variants now annotated.
Filter applied: Quality filters, HIGH/MODERATE snpEff's impact prediction, frequency < 1%, gene listed in OMIM and exonic variant. Includes variants in your genes of interest.
No filter applied: All variants are shown without regard of quality, impact or frequency.