Sequencing Initiative Suomi

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Variant Variant rsid provided by dbSNP b144_GRCh37p13. Otherwise generated
Chr Chromosome (1-22, X, Y, MT)
Pos GRCh37/Hg19 position
Filter Variant has passed all VQSR filters, i.e. a call is made at this position
Ref Reference allele
Alt Alternate allele(s)
N(ref hom) Number of reference allele homozygous individuals after filtering. For bi-allelic sites only
N(het.) Number of heterozygous individuals after filtering. For bi-allelic sites only
N(alt hom) Number of alternative allele homozygous individuals after filtering. For bi-allelic sites only
AF Alternative allele frequency after QC filtering
AF (pre-qc) Alternative allele frequency before QC filtering
Capturekit coverage Variant is covered by bait region of given capture kits (A = agilent11refseqplus3boosters, B = agilentsureselect50mb, C = illuminacodingv1)
Annotation Variant effect predictor annotation, most severe consequence
Enriched ln(OR) Ln(OR) value for Finnish enriched variants (given only if > 1.5). Natural logarithm of AF(Finnish) / maxAF(others in ExACs)
HWE P Hardy-Weinberg P-value (for bi-allelic sites only)
Rep. region Indicates if variant is located in tandem repeat or segmental duplication region
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VQSR filter Finnish Enriched filter
N (minor)
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Query limitQuery limit maximum number of records
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VEP most severe consequence toggle csq filters
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Sisu reference information

rsId
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Chromosome
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Position
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Reference
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Alt
AF
AF (pre-qc)
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Enriched ln(OR)
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HWE P
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N (ref hom)
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N (het.)
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N (alt hom)
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Filter
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Rep. region
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ExAC reference

dbSNP ID
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Allele Count
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Site Quality
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Alleles
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Minor allele: {{minor_allele}}
Population Allele Allele count Allele number N. Homozygotes Allele frequency
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ClinVar reference

ClinVar
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Significance
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Status
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