X-53586429-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053586429
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053586429
    reference: chr 0
allele count: 1
allele frequency: 1.198681450404555e-5
allele num: 83425
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4901C>G
  hgvsp: ENSP00000401253.1:p.Arg1635Gly
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7801C>G
  hgvsp: ENSP00000340648.3:p.Arg2601Gly
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7801C>G
  hgvsp: ENSP00000262854.6:p.Arg2601Gly
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg2601Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

X-53586433-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053586433
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053586433
    reference: chr 0
allele count: 1
allele frequency: 1.20167754184842e-5
allele num: 83217
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4897A>G
  hgvsp: ENST00000427052.1:c.4897A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7797A>G
  hgvsp: ENST00000342160.3:c.7797A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7797A>G
  hgvsp: ENST00000262854.6:c.7797A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln2599Gln
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

X-53586446-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053586446
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053586446
    reference: chr 0
allele count: 1
allele frequency: 1.232620057193571e-5
allele num: 81128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7784G>A
  hgvsp: ENSP00000262854.6:p.Ser2595Asn
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4884G>A
  hgvsp: ENSP00000401253.1:p.Ser1629Asn
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7784G>A
  hgvsp: ENSP00000340648.3:p.Ser2595Asn
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser2595Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-53586448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053586448
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053586448
    reference: chr 0
allele count: 1
allele frequency: 1.241541995157986e-5
allele num: 80545
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4882C>T
  hgvsp: ENST00000427052.1:c.4882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7782C>T
  hgvsp: ENST00000342160.3:c.7782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7782C>T
  hgvsp: ENST00000262854.6:c.7782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser2594Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

X-53586466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053586466
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053586466
    reference: chr 0
allele count: 1
allele frequency: 1.29750489808099e-5
allele num: 77071
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7764C>T
  hgvsp: ENST00000262854.6:c.7764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7764C>T
  hgvsp: ENST00000342160.3:c.7764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4864C>T
  hgvsp: ENST00000427052.1:c.4864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp2588Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

X-53586509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053586509
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053586509
    reference: chr 0
allele count: 1
allele frequency: 1.570697075362046e-5
allele num: 63666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4837-16C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7737-16C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7737-16C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

X-53586527-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053586527
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053586527
    reference: chr 0
allele count: 69
allele frequency: 1.188896738287644e-3
allele num: 58037
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4837-34A>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7737-34A>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7737-34A>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

X-53586535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053586535
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053586535
    reference: chr 0
allele count: 1
allele frequency: 1.852949896234806e-5
allele num: 53968
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7737-42C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7737-42C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4837-42C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

X-53587109-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587109
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587109
    reference: chr 0
allele count: 1
allele frequency: 6.116582053948254e-5
allele num: 16349
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4836+40T>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7736+40T>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7736+40T>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
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site quality: FS

X-53587110-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587110
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587110
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 16334
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
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  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7736+39G>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7736+39G>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
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  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
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  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4836+39G>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
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site quality: QD
site quality: DP
site quality: MQRankSum
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site quality: MQ

X-53587121-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587121
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587121
    reference: chr 0
allele count: 3
allele frequency: 1.806032147372223e-4
allele num: 16611
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7736+28T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4836+28T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
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  variant of: http://identifiers.org/hgnc/30892
canonical: true
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num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
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site quality: DP
site quality: FS
site quality: InbreedingCoeff
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X-53587122-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587122
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587122
    reference: chr 0
allele count: 1
allele frequency: 6.011421701232342e-5
allele num: 16635
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7736+27A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7736+27A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
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  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
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  variant of: http://identifiers.org/hgnc/30892
canonical: true
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
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site quality: MQRankSum
site quality: BaseQRankSum
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site quality: ReadPosRankSum

X-53587146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587146
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587146
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 17952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
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  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7736+3G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4836+3G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
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  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7736+3G>A
  variant of: http://identifiers.org/hgnc/30892
canonical: true
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: c.7736+3G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
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site quality: ClippingRankSum

X-53587175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587175
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587175
    reference: chr 0
allele count: 1
allele frequency: 3.800980653008476e-5
allele num: 26309
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7710G>A
  hgvsp: ENST00000342160.3:c.7710G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4810G>A
  hgvsp: ENST00000427052.1:c.4810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
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  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7710G>A
  hgvsp: ENST00000262854.6:c.7710G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gln2570Gln
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
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site quality: QD

X-53587194-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587194
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587194
    reference: chr 0
allele count: 1
allele frequency: 2.368377424626388e-5
allele num: 42223
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7691A>G
  hgvsp: ENSP00000262854.6:p.His2564Arg
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7691A>G
  hgvsp: ENSP00000340648.3:p.His2564Arg
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
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  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4791A>G
  hgvsp: ENSP00000401253.1:p.His1598Arg
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.His2564Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS

X-53587197-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587197
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587197
    reference: chr 0
allele count: 1
allele frequency: 2.236686125835962e-5
allele num: 44709
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7688T>A
  hgvsp: ENSP00000340648.3:p.Val2563Asp
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7688T>A
  hgvsp: ENSP00000262854.6:p.Val2563Asp
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4788T>A
  hgvsp: ENSP00000401253.1:p.Val1597Asp
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Val2563Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
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site quality: MQRankSum
site quality: MQ
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site quality: VQSLOD
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X-53587215-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587215
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587215
    reference: chr 0
allele count: 2
allele frequency: 3.436130916587922e-5
allele num: 58205
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4770C>G
  hgvsp: ENSP00000401253.1:p.Thr1591Ser
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7670C>G
  hgvsp: ENSP00000262854.6:p.Thr2557Ser
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7670C>G
  hgvsp: ENSP00000340648.3:p.Thr2557Ser
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr2557Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

X-53587223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587223
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587223
    reference: chr 0
allele count: 1
allele frequency: 1.540665875791517e-5
allele num: 64907
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7662G>A
  hgvsp: ENST00000342160.3:c.7662G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7662G>A
  hgvsp: ENST00000262854.6:c.7662G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4762G>A
  hgvsp: ENST00000427052.1:c.4762G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1748
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  variant carriers: 0
hgvs: p.Thr2554Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

X-53587224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587224
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587224
    reference: chr 0
allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7661C>T
  hgvsp: ENSP00000340648.3:p.Thr2554Met
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4761C>T
  hgvsp: ENSP00000401253.1:p.Thr1588Met
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7661C>T
  hgvsp: ENSP00000262854.6:p.Thr2554Met
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Thr2554Met
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

X-53587251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587251
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587251
    reference: chr 0
allele count: 2
allele frequency: 2.450379808870375e-5
allele num: 81620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7634G>A
  hgvsp: ENSP00000262854.6:p.Arg2545His
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4734G>A
  hgvsp: ENSP00000401253.1:p.Arg1579His
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7634G>A
  hgvsp: ENSP00000340648.3:p.Arg2545His
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg2545His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

X-53587272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587272
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587272
    reference: chr 0
allele count: 1
allele frequency: 1.156203029251937e-5
allele num: 86490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7613G>A
  hgvsp: ENSP00000262854.6:p.Arg2538His
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7613G>A
  hgvsp: ENSP00000340648.3:p.Arg2538His
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4713G>A
  hgvsp: ENSP00000401253.1:p.Arg1572His
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg2538His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

X-53587367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587367
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587367
    reference: chr 0
allele count: 1
allele frequency: 1.151821605869683e-5
allele num: 86819
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4618C>T
  hgvsp: ENST00000427052.1:c.4618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7518C>T
  hgvsp: ENST00000262854.6:c.7518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7518C>T
  hgvsp: ENST00000342160.3:c.7518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 49488
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro2506Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

X-53587373-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587373
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587373
    reference: chr 0
allele count: 1
allele frequency: 1.156818286983481e-5
allele num: 86444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7512C>G
  hgvsp: ENSP00000262854.6:p.Asp2504Glu
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7512C>G
  hgvsp: ENSP00000340648.3:p.Asp2504Glu
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4612C>G
  hgvsp: ENSP00000401253.1:p.Asp1538Glu
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 220
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  variant carriers: 0
hgvs: p.Asp2504Glu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

X-53587384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587384
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587384
    reference: chr 0
allele count: 1
allele frequency: 1.176595168900236e-5
allele num: 84991
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4608-7C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7508-7C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7508-7C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 768
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  variant carriers: 0
hgvs: c.7508-7C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

X-53587386-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587386
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587386
    reference: chr 0
allele count: 1
allele frequency: 1.182256691572874e-5
allele num: 84584
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7508-9T>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4608-9T>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7508-9T>A
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

X-53587390-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587390
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587390
    reference: chr 0
allele count: 2
allele frequency: 2.378262679112908e-5
allele num: 84095
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7508-13A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4608-13A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7508-13A>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

X-53587401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587401
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587401
    reference: chr 0
allele count: 27
allele frequency: 3.27848946633477e-4
allele num: 82355
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7508-24C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7508-24C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4608-24C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

X-53587411-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587411
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587411
    reference: chr 0
allele count: 1
allele frequency: 1.241387871640494e-5
allele num: 80555
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4608-34T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7508-34T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7508-34T>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
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X-53587415-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053587415
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053587415
    reference: chr 0
allele count: 2
allele frequency: 2.511679308785854e-5
allele num: 79628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4608-38C>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7508-38C>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7508-38C>A
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

X-53588672-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588672
    reference: chr 0
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    type: ExactPosition
    position: 24053588672
    reference: chr 0
allele count: 1
allele frequency: 1.204470996338408e-5
allele num: 83024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4607+45T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7507+45T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
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  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7507+45T>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

X-53588681-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588681
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588681
    reference: chr 0
allele count: 1
allele frequency: 1.201157916231247e-5
allele num: 83253
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4607+36T>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7507+36T>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7507+36T>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

X-53588685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588685
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588685
    reference: chr 0
allele count: 1
allele frequency: 1.199198935111346e-5
allele num: 83389
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7507+32C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4607+32C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
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  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7507+32C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
  all individuals: 358
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

X-53588698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588698
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588698
    reference: chr 0
allele count: 1
allele frequency: 1.185578621646295e-5
allele num: 84347
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7507+19G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4607+19G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7507+19G>A
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

X-53588701-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588701
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588701
    reference: chr 0
allele count: 1
allele frequency: 1.180832723236426e-5
allele num: 84686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7507+16T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4607+16T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7507+16T>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

X-53588708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588708
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588708
    reference: chr 0
allele count: 3
allele frequency: 3.517699893296437e-5
allele num: 85283
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7507+9C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7507+9C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4607+9C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

X-53588708-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588708
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588709
    reference: chr 0
allele count: 3
allele frequency: 3.517699893296437e-5
allele num: 85283
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4607+8dupA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7507+8dupA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7507+8dupA
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
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site quality: DP

X-53588747-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588747
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588747
    reference: chr 0
allele count: 1
allele frequency: 1.148408879497456e-5
allele num: 87077
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4577A>G
  hgvsp: ENSP00000401253.1:p.Ile1527Val
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7477A>G
  hgvsp: ENSP00000262854.6:p.Ile2493Val
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7477A>G
  hgvsp: ENSP00000340648.3:p.Ile2493Val
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Ile2493Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
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site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

X-53588750-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588750
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588750
    reference: chr 0
allele count: 1
allele frequency: 1.147749836445648e-5
allele num: 87127
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7474A>G
  hgvsp: ENSP00000340648.3:p.Ile2492Val
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7474A>G
  hgvsp: ENSP00000262854.6:p.Ile2492Val
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4574A>G
  hgvsp: ENSP00000401253.1:p.Ile1526Val
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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hgvs: p.Ile2492Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

X-53588811-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588811
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588811
    reference: chr 0
allele count: 3
allele frequency: 3.419855682090216e-5
allele num: 87723
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4513T>C
  hgvsp: ENST00000427052.1:c.4513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7413T>C
  hgvsp: ENST00000342160.3:c.7413T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7413T>C
  hgvsp: ENST00000262854.6:c.7413T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Tyr2471Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

X-53588864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588864
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588864
    reference: chr 0
allele count: 1
allele frequency: 1.139821959809878e-5
allele num: 87733
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7360G>A
  hgvsp: ENSP00000340648.3:p.Gly2454Arg
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7360G>A
  hgvsp: ENSP00000262854.6:p.Gly2454Arg
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4460G>A
  hgvsp: ENSP00000401253.1:p.Gly1488Arg
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Gly2454Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

X-53588873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588873
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588873
    reference: chr 0
allele count: 1
allele frequency: 1.139912910653626e-5
allele num: 87726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4451G>A
  hgvsp: ENSP00000401253.1:p.Gly1485Ser
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7351G>A
  hgvsp: ENSP00000262854.6:p.Gly2451Ser
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7351G>A
  hgvsp: ENSP00000340648.3:p.Gly2451Ser
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Gly2451Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

X-53588898-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588898
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588898
    reference: chr 0
allele count: 3
allele frequency: 3.421181676150943e-5
allele num: 87689
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7339-13A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4439-13A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7339-13A>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8356
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2092
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

X-53588898-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588898
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588898
    reference: chr 0
allele count: 1
allele frequency: 1.140393892050314e-5
allele num: 87689
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4439-13A>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7339-13A>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7339-13A>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

X-53588917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588917
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588917
    reference: chr 0
allele count: 1
allele frequency: 1.140927345746623e-5
allele num: 87648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4439-32C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7339-32C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7339-32C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

X-53588921-G-GTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588921
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588923
    reference: chr 0
allele count: 1
allele frequency: 1.140953380644867e-5
allele num: 87646
alternate allele: GTA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7339-38_7339-37dupTA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4439-38_4439-37dupTA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7339-38_7339-37dupTA
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

X-53588931-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588931
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588931
    reference: chr 0
allele count: 3
allele frequency: 3.42219636562746e-5
allele num: 87663
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7339-46A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7339-46A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4439-46A>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

X-53588934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053588934
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053588934
    reference: chr 0
allele count: 1
allele frequency: 1.140836232958759e-5
allele num: 87655
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7339-49C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4439-49C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7339-49C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3369
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

X-53589029-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589029
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589029
    reference: chr 0
allele count: 6
allele frequency: 6.846970215679562e-5
allele num: 87630
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7338+43C>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7338+43C>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4438+43C>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

X-53589029-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589029
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589029
    reference: chr 0
allele count: 1
allele frequency: 1.14116170261326e-5
allele num: 87630
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7338+43C>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7338+43C>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4438+43C>A
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

X-53589034-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589034
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589034
    reference: chr 0
allele count: 1
allele frequency: 1.14148735802751e-5
allele num: 87605
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7338+38T>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7338+38T>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4438+38T>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

X-53589034-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589034
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589034
    reference: chr 0
allele count: 1
allele frequency: 1.14148735802751e-5
allele num: 87605
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7338+38T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4438+38T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7338+38T>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 936
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

X-53589036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589036
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589036
    reference: chr 0
allele count: 6
allele frequency: 6.850488097276931e-5
allele num: 87585
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7338+36C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4438+36C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7338+36C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

X-53589038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589038
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589038
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 87573
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7338+34G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7338+34G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4438+34G>A
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

X-53589039-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589039
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589039
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 87571
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7338+33T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4438+33T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7338+33T>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11523
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 774
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-53589056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589056
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589056
    reference: chr 0
allele count: 2
allele frequency: 2.288800897209952e-5
allele num: 87382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4438+16G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7338+16G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7338+16G>A
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25351
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8822
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 913
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6638
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

X-53589057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589057
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589057
    reference: chr 0
allele count: 44
allele frequency: 5.037898738235361e-4
allele num: 87338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7338+15C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7338+15C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4438+15C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8785
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6634
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  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 9.25e1
  variant carriers: 3
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

X-53589060-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589060
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589059
    reference: chr 0
allele count: 1
allele frequency: 1.145068761379121e-5
allele num: 87331
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4438+11delA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7338+11delA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7338+11delA
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 478
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: GT
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

X-53589067-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589067
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589067
    reference: chr 0
allele count: 1
allele frequency: 1.146355163756835e-5
allele num: 87233
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4438+5G>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7338+5G>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7338+5G>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8556
  bin: 6.75e1
  variant carriers: 0
hgvs: c.7338+5G>C
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

X-53589075-ATCATCTTCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589075
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589066
    reference: chr 0
allele count: 4
allele frequency: 4.595377050687009e-5
allele num: 87044
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsp: ENSP00000340648.3:p.Glu2442_Asp2444del
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsp: ENSP00000262854.6:p.Glu2442_Asp2444del
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsp: ENSP00000401253.1:p.Glu1476_Asp1478del
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1888
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6566
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Glu2442_Asp2444del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: ATCATCTTCC
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

X-53589087-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589087
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589087
    reference: chr 0
allele count: 1
allele frequency: 1.152618172178103e-5
allele num: 86759
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4423T>A
  hgvsp: ENSP00000401253.1:p.Asp1475Glu
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7323T>A
  hgvsp: ENSP00000340648.3:p.Asp2441Glu
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7323T>A
  hgvsp: ENSP00000262854.6:p.Asp2441Glu
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23593
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32216
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
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genotype quality: GenotypeQuality
  all individuals: 6595
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6537
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp2441Glu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

X-53589090-TTCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589090
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589087
    reference: chr 0
allele count: 63
allele frequency: 7.358437675200897e-4
allele num: 85616
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7317_7319delGGA
  hgvsp: ENSP00000340648.3:p.Glu2440del
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4417_4419delGGA
  hgvsp: ENSP00000401253.1:p.Glu1474del
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7317_7319delGGA
  hgvsp: ENSP00000262854.6:p.Glu2440del
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11451
  bin: 2.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23039
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1879
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
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  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 429
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  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 517
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
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  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 568
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genotype quality: GenotypeQuality
  all individuals: 6164
  bin: 6.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1679
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  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 30105
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  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 7
hgvs: p.Glu2440del
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: TTCC
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

X-53589090-T-TTCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589090
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589093
    reference: chr 0
allele count: 1
allele frequency: 1.168005980190619e-5
allele num: 85616
alternate allele: TTCC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4417_4419dupGGA
  hgvsp: ENSP00000401253.1:p.Glu1474dup
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7317_7319dupGGA
  hgvsp: ENSP00000340648.3:p.Glu2440dup
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7317_7319dupGGA
  hgvsp: ENSP00000262854.6:p.Glu2440dup
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6204
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu2440dup
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-53589090-TTCCTCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589090
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589084
    reference: chr 0
allele count: 2
allele frequency: 2.336011960381237e-5
allele num: 85616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7314_7319delGGAGGA
  hgvsp: ENSP00000262854.6:p.Glu2439_Glu2440del
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7314_7319delGGAGGA
  hgvsp: ENSP00000340648.3:p.Glu2439_Glu2440del
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4414_4419delGGAGGA
  hgvsp: ENSP00000401253.1:p.Glu1473_Glu1474del
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6204
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu2439_Glu2440del
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: TTCCTCC
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

X-53589105-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589105
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589102
    reference: chr 0
allele count: 1
allele frequency: 1.157635182848477e-5
allele num: 86383
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4402_4404delAGA
  hgvsp: ENSP00000401253.1:p.Glu1474del
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7302_7304delAGA
  hgvsp: ENSP00000340648.3:p.Glu2440del
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7302_7304delAGA
  hgvsp: ENSP00000262854.6:p.Glu2440del
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23225
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu2440del
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: CTCT
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

X-53589135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589135
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589135
    reference: chr 0
allele count: 1
allele frequency: 1.165664195458572e-5
allele num: 85788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4375C>T
  hgvsp: ENST00000427052.1:c.4375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7275C>T
  hgvsp: ENST00000342160.3:c.7275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7275C>T
  hgvsp: ENST00000262854.6:c.7275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn2425Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

X-53589142-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589142
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589142
    reference: chr 0
allele count: 2
allele frequency: 2.338278792980487e-5
allele num: 85533
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4368G>T
  hgvsp: ENSP00000401253.1:p.Gly1457Val
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7268G>T
  hgvsp: ENSP00000340648.3:p.Gly2423Val
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7268G>T
  hgvsp: ENSP00000262854.6:p.Gly2423Val
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 948
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3559
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  variant carriers: 0
hgvs: p.Gly2423Val
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ

X-53589156-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589156
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589156
    reference: chr 0
allele count: 1
allele frequency: 1.178161596644596e-5
allele num: 84878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4354A>G
  hgvsp: ENST00000427052.1:c.4354A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7254A>G
  hgvsp: ENST00000342160.3:c.7254A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7254A>G
  hgvsp: ENST00000262854.6:c.7254A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Glu2418Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
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site quality: DP

X-53589171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589171
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589171
    reference: chr 0
allele count: 1
allele frequency: 1.204659623423402e-5
allele num: 83011
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4339G>A
  hgvsp: ENST00000427052.1:c.4339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7239G>A
  hgvsp: ENST00000262854.6:c.7239G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
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  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7239G>A
  hgvsp: ENST00000342160.3:c.7239G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Glu2413Glu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
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site quality: FS
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X-53589214-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589214
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589214
    reference: chr 0
allele count: 2
allele frequency: 2.787689562890277e-5
allele num: 71744
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7205-9T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4305-9T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
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  gene symbol: HUWE1
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  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
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site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
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X-53589228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589228
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589228
    reference: chr 0
allele count: 1
allele frequency: 1.477454051179008e-5
allele num: 67684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7205-23C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7205-23C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4305-23C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
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X-53589242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589242
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589242
    reference: chr 0
allele count: 7
allele frequency: 1.105234072787558e-4
allele num: 63335
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7205-37C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4305-37C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7205-37C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
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X-53589246-C-T
type: Variant
location: Region
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    type: ExactPosition
    position: 24053589246
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589246
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 61975
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
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  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
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  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
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  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
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  variant of: http://identifiers.org/hgnc/30892
canonical: true
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genotype quality: GenotypeQuality
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population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
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X-53589251-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589251
    reference: chr 0
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    type: ExactPosition
    position: 24053589251
    reference: chr 0
allele count: 1
allele frequency: 1.652237129072764e-5
allele num: 60524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
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  ensembl protein: ENSP00000401253
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  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4305-46T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
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  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7205-46T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
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  variant of: http://identifiers.org/hgnc/30892
canonical: true
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population: Other
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population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
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site quality: MQRankSum
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X-53589747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589747
    reference: chr 0
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    type: ExactPosition
    position: 24053589747
    reference: chr 0
allele count: 10
allele frequency: 1.15947406256522e-4
allele num: 86246
alternate allele: T
annotation: Annotation
  canonical: true
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  gene symbol: HUWE1
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  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
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  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7204+45G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
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  ensembl gene: ENSG00000086758
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  variant of: http://identifiers.org/hgnc/30892
canonical: true
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population: African
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X-53589748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
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    reference: chr 0
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    type: ExactPosition
    position: 24053589748
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allele count: 1
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allele num: 86267
alternate allele: A
annotation: Annotation
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  gene symbol: HUWE1
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  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
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  gene symbol: HUWE1
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  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
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genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

X-53589780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589780
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589780
    reference: chr 0
allele count: 2
allele frequency: 2.291659505230713e-5
allele num: 87273
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7204+12G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7204+12G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4304+12G>A
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15779
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-53589814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053589814
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053589814
    reference: chr 0
allele count: 1
allele frequency: 1.140979416731322e-5
allele num: 87644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000401253
  ensembl transcript: ENST00000427052
  gene symbol: HUWE1
  hgvsc: ENST00000427052.1:c.4282C>T
  hgvsp: ENST00000427052.1:c.4282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.7182C>T
  hgvsp: ENST00000262854.6:c.7182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.7182C>T
  hgvsp: ENST00000342160.3:c.7182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser2394Ser
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 6176
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.107419712070875e-4
allele num: 9030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 599
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4211
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6393
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.224e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.135e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.169e1

VQSLOD
type: SiteQuality
SIO_000300: -3.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.553628e6

GenotypeQuality
all individuals: 1020
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8165
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.066098081023454e-4
allele num: 9380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6385
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4191
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45484
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

DP
type: SiteQuality
SIO_000300: 1.542535e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.433e-1

QD
type: SiteQuality
SIO_000300: 3.446e1

GenotypeQuality
all individuals: 309
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44285
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6253
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.136880400181901e-4
allele num: 8796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9139
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4061
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

QD
type: SiteQuality
SIO_000300: 1.497e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.368e0

DP
type: SiteQuality
SIO_000300: 1.476085e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

GenotypeQuality
all individuals: 802
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.276504200150249e-5
allele num: 43927
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9093
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7985
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 575
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6217
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.479e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

QD
type: SiteQuality
SIO_000300: 7.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.967e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

DP
type: SiteQuality
SIO_000300: 1.457608e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 9.74e-1

GenotypeQuality
all individuals: 518
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8423
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8749
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41935
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.680107526881721e-4
allele num: 5952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7741
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3723
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

DP
type: SiteQuality
SIO_000300: 1.363103e6

QD
type: SiteQuality
SIO_000300: 1.284e1

FS
type: SiteQuality
SIO_000300: 3.004e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.712e1

VQSLOD
type: SiteQuality
SIO_000300: -1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.372e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

GenotypeQuality
all individuals: 250
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4905
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6729
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.321702352630188e-4
allele num: 7566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6877
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 459
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.025822e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

GenotypeQuality
all individuals: 541
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6265
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2343
num of homozygotes: 0

East Asian
type: Population
allele count: 65
allele frequency: 1.472920915477e-2
allele num: 4413
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 4.830917874396135e-3
allele num: 414
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.793296089385475e-4
allele num: 7160
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

FS
type: SiteQuality
SIO_000300: 8.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

QD
type: SiteQuality
SIO_000300: 1.692e1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.96559e5

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5975
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29005
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.456452082726478e-4
allele num: 6866
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.524e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 6.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.912e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.51605e5

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 153
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 369
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.263264274886306e-4
allele num: 7916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2539
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 4.21611e5

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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FS
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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num of homozygotes: 0

ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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QD
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 2.105706464518846e-4
allele num: 4749
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 604
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European (Non-Finnish)
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allele frequency: 2.477393781741608e-4
allele num: 8073
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 381
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European (Finnish)
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allele frequency: 0.0e0
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Other
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MQ
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 604
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Latino
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allele frequency: 0.0e0
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African
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.235941169200346e-4
allele num: 8091
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European (Finnish)
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allele frequency: 0.0e0
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QD
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8928
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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South Asian
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FS
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MQRankSum
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InbreedingCoeff
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QD
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DP
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.094211123723042e-5
allele num: 14096
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
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MQRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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variant carriers: 0

African
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
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European (Finnish)
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allele frequency: 6.618133686300463e-4
allele num: 1511
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 23163
num of homozygotes: 0

VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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QD
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BaseQRankSum
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FS
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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African
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FS
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DP
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 31684
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African
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South Asian
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allele frequency: 2.82326369282891e-4
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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QD
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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DP
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2669
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.826295856650274e-5
allele num: 35382
num of homozygotes: 0

East Asian
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South Asian
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Other
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allele frequency: 0.0e0
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Latino
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African
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FS
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ReadPosRankSum
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ClippingRankSum
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DP
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MQ
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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South Asian
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African
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allele frequency: 1.432459533018192e-4
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European (Finnish)
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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VQSLOD
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FS
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DP
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

East Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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South Asian
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Latino
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MQ
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Other
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South Asian
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FS
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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South Asian
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DP
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QD
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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Latino
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African
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.147212917632913e-5
allele num: 46572
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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Other
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VQSLOD
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DP
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MQRankSum
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QD
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.157823187967978e-5
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African
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Latino
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South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Finnish)
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allele frequency: 0.0e0
allele num: 4194
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African
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East Asian
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allele frequency: 3.113809746224506e-4
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 46064
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South Asian
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Other
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MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 6290
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European (Non-Finnish)
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allele frequency: 5.104418651101888e-4
allele num: 45059
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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African
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allele frequency: 1.225940909648155e-4
allele num: 8157
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Latino
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allele frequency: 3.402132002721706e-4
allele num: 8818
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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SIO_000300: 6.34e-2

GenotypeQuality
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variant carriers: 0

African
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allele frequency: 1.242390359050814e-4
allele num: 8049
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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ReadPosRankSum
type: SiteQuality
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QD
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.43e-1

GenotypeQuality
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variant carriers: 0

South Asian
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Latino
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Other
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European (Non-Finnish)
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allele count: 2
allele frequency: 4.590419793890152e-5
allele num: 43569
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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QD
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.223840411210378e-4
allele num: 8171
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8950
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4319
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.923e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

VQSLOD
type: SiteQuality
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.192453574795554e-5
allele num: 45611
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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QD
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DP
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
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allele frequency: 1.221747098350641e-4
allele num: 8185
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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South Asian
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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DP
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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African
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European (Non-Finnish)
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South Asian
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VQSLOD
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InbreedingCoeff
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QD
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FS
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MQ
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DP
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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Other
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European (Non-Finnish)
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Latino
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South Asian
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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FS
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DP
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QD
type: SiteQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Finnish)
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Other
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South Asian
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African
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Latino
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European (Non-Finnish)
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allele frequency: 4.272226257102576e-5
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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South Asian
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Latino
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European (Non-Finnish)
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Other
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East Asian
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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East Asian
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Other
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Latino
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BaseQRankSum
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MQ
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FS
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 1.895076e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 9915
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47758
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.080146899978397e-4
allele num: 9258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 627
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

DP
type: SiteQuality
SIO_000300: 1.897112e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.37e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.941e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47989
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.524436090225564e-4
allele num: 8512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

FS
type: SiteQuality
SIO_000300: 3.361e0

DP
type: SiteQuality
SIO_000300: 1.930285e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8513
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083984578514119e-5
allele num: 47985
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9319
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10119
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.052e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 1.931079e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.08389772229979e-5
allele num: 47987
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9317
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10115
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.33e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.29e1

DP
type: SiteQuality
SIO_000300: 1.930082e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.978435057869226e-4
allele num: 10109
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.174812030075188e-4
allele num: 8512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4526
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47969
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.85e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

DP
type: SiteQuality
SIO_000300: 1.923755e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.313e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.08467968896579e-5
allele num: 47969
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6628
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 633
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VQSLOD
type: SiteQuality
SIO_000300: -3.313e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.313e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.85e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

DP
type: SiteQuality
SIO_000300: 1.923755e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6623
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 2.210433244916003e-4
allele num: 4524
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47944
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African
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allele frequency: 0.0e0
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Other
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allele num: 632
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.918313e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 3.275e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.892175289346128e-5
allele num: 10109
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47945
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6618
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4523
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African
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allele frequency: 0.0e0
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Other
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allele count: 0
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allele num: 633
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MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.753e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 6.296e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 6623
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10109
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47953
num of homozygotes: 0

Latino
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allele frequency: 3.22234156820623e-4
allele num: 9310
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.313e-1

FS
type: SiteQuality
SIO_000300: 6.097e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

DP
type: SiteQuality
SIO_000300: 1.921375e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.175226231049477e-4
allele num: 8509
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 47944
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 6624
num of homozygotes: 0

DP
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

Latino
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allele frequency: 5.372877713303245e-4
allele num: 9306
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.08554922938956e-5
allele num: 47949
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African
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Other
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 4516
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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num of homozygotes: 0

South Asian
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Other
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.074575542660649e-4
allele num: 9306
num of homozygotes: 0

ReadPosRankSum
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QD
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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Other
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num of homozygotes: 0

Latino
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South Asian
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East Asian
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allele frequency: 1.507159005275056e-4
allele num: 6635
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.971765e6

QD
type: SiteQuality
SIO_000300: 1.098e1

FS
type: SiteQuality
SIO_000300: 9.039999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.625e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.398e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

GenotypeQuality
all individuals: 1673
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8503
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 9.04295403165034e-4
allele num: 6635
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4511
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10077
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47925
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

FS
type: SiteQuality
SIO_000300: 1.771e0

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.970771e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.301e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 2827
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4507
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47925
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.878e0

MQRankSum
type: SiteQuality
SIO_000300: -1.581e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.59e-1

DP
type: SiteQuality
SIO_000300: 1.968779e6

FS
type: SiteQuality
SIO_000300: 5.726e0

VQSLOD
type: SiteQuality
SIO_000300: -3.406e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.867e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8503
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10073
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4503
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.233e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.967985e6

MQRankSum
type: SiteQuality
SIO_000300: -8.55e-1

QD
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.867e1

FS
type: SiteQuality
SIO_000300: 5.726e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.96e-1

GenotypeQuality
all individuals: 32391
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6625
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10021
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9289
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.179466282155769e-5
allele num: 47853
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4482
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 1.946027e6

MQ
type: SiteQuality
SIO_000300: 5.884e1

QD
type: SiteQuality
SIO_000300: 1.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.098e-1

GenotypeQuality
all individuals: 757
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 5.645346770652561e-4
allele num: 47827
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8479
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.696945498103414e-3
allele num: 10018
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.72e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.127e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.07e-1

DP
type: SiteQuality
SIO_000300: 1.945379e6

QD
type: SiteQuality
SIO_000300: 1.928e1

GenotypeQuality
all individuals: 358
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10013
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47830
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.179662616491683e-4
allele num: 8477
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4476
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

DP
type: SiteQuality
SIO_000300: 1.93947e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

MQ
type: SiteQuality
SIO_000300: 6.135e1

QD
type: SiteQuality
SIO_000300: 2.686e1

GenotypeQuality
all individuals: 2524
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.092925910422771e-5
allele num: 47780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.985e0

FS
type: SiteQuality
SIO_000300: 7.717e0

QD
type: SiteQuality
SIO_000300: 1.474e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.925435e6

GenotypeQuality
all individuals: 8480
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4453
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9925
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9251
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.182033096926714e-4
allele num: 8460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.191114836546522e-5
allele num: 47720
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

QD
type: SiteQuality
SIO_000300: 4.8e0

MQRankSum
type: SiteQuality
SIO_000300: -2.917e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.443e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

FS
type: SiteQuality
SIO_000300: 2.521e0

DP
type: SiteQuality
SIO_000300: 1.910879e6

GenotypeQuality
all individuals: 824
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 623
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.10220942210263e-5
allele num: 47569
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4423
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.877705e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

FS
type: SiteQuality
SIO_000300: 7.793e0

MQRankSum
type: SiteQuality
SIO_000300: -1.708e0

QD
type: SiteQuality
SIO_000300: 2.224e1

VQSLOD
type: SiteQuality
SIO_000300: -1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQ
type: SiteQuality
SIO_000300: 5.808e1

GenotypeQuality
all individuals: 6204
bin: 9.75e1
variant carriers: 71

South Asian
type: Population
allele count: 9
allele frequency: 9.338036937123885e-4
allele num: 9638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4399
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.628664495114007e-3
allele num: 614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 29
allele frequency: 6.176257613834817e-4
allele num: 46954
num of homozygotes: 0

African
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allele count: 6
allele frequency: 7.157342240248121e-4
allele num: 8383
num of homozygotes: 0

East Asian
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allele count: 9
allele frequency: 1.376778338687471e-3
allele num: 6537
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 9.89990100098999e-4
allele num: 9091
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

DP
type: SiteQuality
SIO_000300: 1.875255e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.51e-2

QD
type: SiteQuality
SIO_000300: 5.36e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46954
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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allele num: 614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 6537
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4399
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.037559659680432e-4
allele num: 9638
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.875255e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.51e-2

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele num: 8383
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.529753709652746e-4
allele num: 6537
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4399
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.099989000109999e-4
allele num: 9091
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.875255e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.51e-2

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9214
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 2.280501710376283e-4
allele num: 4385
num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele num: 8417
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47419
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 619
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.491e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.822512e6

FS
type: SiteQuality
SIO_000300: 3.427e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.121790791427965e-5
allele num: 47130
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4327
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

East Asian
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South Asian
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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DP
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GenotypeQuality
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Latino
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East Asian
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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QD
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VQSLOD
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MQ
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GenotypeQuality
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European (Finnish)
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South Asian
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Other
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Latino
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European (Non-Finnish)
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African
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East Asian
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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GenotypeQuality
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variant carriers: 0

Latino
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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Other
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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QD
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BaseQRankSum
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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Other
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African
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East Asian
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South Asian
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 2.057371267340701e-4
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South Asian
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Latino
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African
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Other
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VQSLOD
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QD
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BaseQRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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African
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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MQ
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QD
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FS
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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Other
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South Asian
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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VQSLOD
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MQRankSum
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QD
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DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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MQ
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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East Asian
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FS
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QD
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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Latino
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South Asian
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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FS
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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Other
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QD
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VQSLOD
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DP
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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