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ExomesGenomesTotal
Filters PassNo variant
Allele Count22
Allele Number249500249500
Allele Frequency0.0000080160.000008016
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00
Mean depth of coverage82.930.9

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Genetic Ancestry Group Frequencies

13452200.00002897
111324000.000008831
01548800.000
01007000.000
01796800.000
02156200.000
03059600.000
0605400.000
XX011413800.000
XY213536200.00001478
Total224950000.000008016
Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Effect Predictor

This variant falls on 7 transcripts in 1 gene.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

  1. missense

    1. ROBO2

      1. ENST00000487694.3
        Ensembl canonical transcript for ROBO2
        HGVSp
        p.Pro1032Ser
        Domains
        • PTHR10489 (hmmpanther)
        Polyphen
        possibly_damaging
        SIFT
        tolerated
      2. ENST00000332191.8
        HGVSp
        p.Pro1016Ser
        Domains
        • PTHR10489 (hmmpanther)
        Polyphen
        benign
        SIFT
        tolerated
      3. ENST00000461745.1
        HGVSp
        p.Pro1016Ser
        Domains
        • PTHR10489 (hmmpanther)
        Polyphen
        possibly_damaging
        SIFT
        tolerated
  2. 3' UTR

    1. ROBO2

      1. ENST00000473767.1
        HGVSc
        c.*1490C>T

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality012Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110K120KAll individuals

Note: This plot may include low-quality genotypes that were excluded from allele counts in the tables above.

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality050.0K100K150K200K250K300K350K400K450K500KExome variants3.054e+3

Value: 3.054e+3 (exome samples)

This is the site quality distribution for all doubleton exome variants.

Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.

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