X-53652870-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053652870
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053652870
    reference: chr 0
allele count: 1
allele frequency: 1.224784744081228e-5
allele num: 81647
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.1490-651C>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.1490-651C>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1490-651C>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.401C>A
  hgvsp: ENSP00000415122.1:p.Pro135Thr
  variant of: http://identifiers.org/hgnc/30892
canonical: false
consequence: missense
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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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.Pro135Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

X-53652875-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053652875
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053652875
    reference: chr 0
allele count: 1
allele frequency: 1.222523778087484e-5
allele num: 81798
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.1490-656C>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.1490-656C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.396C>T
  hgvsp: ENSP00000415122.1:p.Pro133Leu
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1490-656C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: false
consequence: missense
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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Pro133Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

X-53652892-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053652892
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053652892
    reference: chr 0
allele count: 3
allele frequency: 3.654792651430242e-5
allele num: 82084
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.1490-673T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.379T>C
  hgvsp: ENST00000424562.1:c.379T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1490-673T>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.1490-673T>C
  variant of: http://identifiers.org/hgnc/30892
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4279
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Thr127Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

X-53652900-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053652900
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053652900
    reference: chr 0
allele count: 1
allele frequency: 1.217670839218742e-5
allele num: 82124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1490-681A>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.1490-681A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.371A>G
  hgvsp: ENSP00000415122.1:p.Ser125Gly
  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.1490-681A>G
  variant of: http://identifiers.org/hgnc/30892
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
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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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  variant carriers: 0
hgvs: p.Ser125Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

X-53652903-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053652903
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053652903
    reference: chr 0
allele count: 2
allele frequency: 2.435045170087905e-5
allele num: 82134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1490-684A>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.1490-684A>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.1490-684A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.368A>G
  hgvsp: ENSP00000415122.1:p.Ser124Gly
  variant of: http://identifiers.org/hgnc/30892
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10238
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
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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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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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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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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  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
  all individuals: 6857
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser124Gly
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-53652953-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053652953
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053652953
    reference: chr 0
allele count: 1
allele frequency: 1.217344727679984e-5
allele num: 82146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1490-734C>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.318C>A
  hgvsp: ENSP00000415122.1:p.Ser107Tyr
  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.1490-734C>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.1490-734C>A
  variant of: http://identifiers.org/hgnc/30892
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  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 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: 1919
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 6995
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  variant carriers: 0
hgvs: p.Ser107Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

X-53652956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053652956
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053652956
    reference: chr 0
allele count: 1
allele frequency: 1.217418828599603e-5
allele num: 82141
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.1490-737C>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.1490-737C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.315C>T
  hgvsp: ENSP00000415122.1:p.Ser106Leu
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1490-737C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
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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
  all individuals: 200
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
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  variant carriers: 0
hgvs: p.Ser106Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS

X-53653021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053653021
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053653021
    reference: chr 0
allele count: 1
allele frequency: 1.264222503160556e-5
allele num: 79100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1490-802A>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.1490-802A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.282-32A>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.1490-802A>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.75e1
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff

X-53653026-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053653026
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053653026
    reference: chr 0
allele count: 10
allele frequency: 1.276601177026285e-4
allele num: 78333
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.282-37A>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.1490-807A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1490-807A>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.1490-807A>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9354
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  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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  bin: 4.25e1
  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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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
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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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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 8
genotype quality: GenotypeQuality
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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: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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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: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

X-53653035-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053653035
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053653035
    reference: chr 0
allele count: 2
allele frequency: 2.631717458813622e-5
allele num: 75996
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.1490-816G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.282-46G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1490-816G>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.1490-816G>A
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  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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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 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
  all individuals: 6908
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

X-53653036-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053653036
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053653036
    reference: chr 0
allele count: 1
allele frequency: 1.321894539253658e-5
allele num: 75649
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1490-817G>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.1490-817G>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.282-47G>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.1490-817G>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
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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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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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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: 1
genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1
genotype quality: GenotypeQuality
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

X-53654312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654312
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654312
    reference: chr 0
allele count: 5
allele frequency: 5.836008170411438e-5
allele num: 85675
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1489+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.1489+49C>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.1489+49C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.281+49C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 4.25e1
  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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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: 4.75e1
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genotype depth: GenotypeDepth
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  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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genotype depth: GenotypeDepth
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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: 8884
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

X-53654314-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654314
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654315
    reference: chr 0
allele count: 5
allele frequency: 5.847474475773913e-5
allele num: 85507
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.1489+46dupT
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1489+46dupT
  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.1489+46dupT
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.281+46dupT
  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
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site quality: ReadPosRankSum

X-53654321-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654321
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654321
    reference: chr 0
allele count: 1
allele frequency: 1.16427989288625e-5
allele num: 85890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1489+40A>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.1489+40A>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.1489+40A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.281+40A>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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

X-53654325-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654325
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654325
    reference: chr 0
allele count: 1
allele frequency: 1.163250587441547e-5
allele num: 85966
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.1489+36T>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1489+36T>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.281+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.1489+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 quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

X-53654328-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654328
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654328
    reference: chr 0
allele count: 1
allele frequency: 1.161966512125121e-5
allele num: 86061
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.281+33G>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.1489+33G>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1489+33G>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.1489+33G>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
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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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num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

X-53654339-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654339
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654339
    reference: chr 0
allele count: 1
allele frequency: 1.153482363254666e-5
allele num: 86694
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.1489+22A>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.1489+22A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1489+22A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.281+22A>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
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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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  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 depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 8.25e1
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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: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

X-53654343-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654343
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654343
    reference: chr 0
allele count: 1
allele frequency: 1.15060234032516e-5
allele num: 86911
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.1489+18A>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.1489+18A>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1489+18A>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.281+18A>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 550
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 292
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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
  all individuals: 165
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genotype quality: GenotypeQuality
  all individuals: 2206
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1059
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

X-53654350-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654350
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654348
    reference: chr 0
allele count: 1
allele frequency: 1.146762688929153e-5
allele num: 87202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.281+9_281+10delCA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1489+9_1489+10delCA
  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.1489+9_1489+10delCA
  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.1489+9_1489+10delCA
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
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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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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
  all individuals: 111
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genotype depth: GenotypeDepth
  all individuals: 1084
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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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  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: CTG
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

X-53654365-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654365
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654365
    reference: chr 0
allele count: 1
allele frequency: 1.14187838995147e-5
allele num: 87575
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.1485G>A
  hgvsp: ENSP00000340648.3:p.Met495Ile
  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.1485G>A
  hgvsp: ENSP00000262854.6:p.Met495Ile
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.277G>A
  hgvsp: ENSP00000415122.1:p.Met93Ile
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1485G>A
  hgvsp: ENSP00000218328.8:p.Met495Ile
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 40
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genotype quality: GenotypeQuality
  all individuals: 2487
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  variant carriers: 0
hgvs: p.Met495Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

X-53654367-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654367
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654367
    reference: chr 0
allele count: 1
allele frequency: 1.141526449167827e-5
allele num: 87602
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.1483A>G
  hgvsp: ENSP00000262854.6:p.Met495Val
  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.1483A>G
  hgvsp: ENSP00000340648.3:p.Met495Val
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1483A>G
  hgvsp: ENSP00000218328.8:p.Met495Val
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.275A>G
  hgvsp: ENSP00000415122.1:p.Met93Val
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
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  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
  all individuals: 10941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
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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: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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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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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9937
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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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: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met495Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

X-53654380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654380
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654380
    reference: chr 0
allele count: 5
allele frequency: 5.70235963641755e-5
allele num: 87683
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.262A>G
  hgvsp: ENST00000424562.1:c.262A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1470A>G
  hgvsp: ENST00000218328.8:c.1470A>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.1470A>G
  hgvsp: ENST00000262854.6:c.1470A>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.1470A>G
  hgvsp: ENST00000342160.3:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
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genotype depth: GenotypeDepth
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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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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2.5e0
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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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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: 368
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu490Glu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

X-53654394-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654394
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654394
    reference: chr 0
allele count: 1
allele frequency: 1.140029868782562e-5
allele num: 87717
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.1456C>G
  hgvsp: ENSP00000340648.3:p.Gln486Glu
  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.1456C>G
  hgvsp: ENSP00000262854.6:p.Gln486Glu
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1456C>G
  hgvsp: ENSP00000218328.8:p.Gln486Glu
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.248C>G
  hgvsp: ENSP00000415122.1:p.Gln84Glu
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22542
  bin: 2.25e1
  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: 164
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
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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: 5.25e1
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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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genotype quality: GenotypeQuality
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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: 16
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  variant carriers: 0
hgvs: p.Gln486Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

X-53654402-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654402
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654402
    reference: chr 0
allele count: 1476
allele frequency: 1.682568995588386e-2
allele num: 87723
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1448A>G
  hgvsp: ENSP00000218328.8:p.Asn483Ser
  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.1448A>G
  hgvsp: ENSP00000262854.6:p.Asn483Ser
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.240A>G
  hgvsp: ENSP00000415122.1:p.Asn81Ser
  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.1448A>G
  hgvsp: ENSP00000340648.3:p.Asn483Ser
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
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  variant carriers: 59
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1117
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  variant carriers: 60
genotype depth: GenotypeDepth
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  variant carriers: 7
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 58
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
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  variant carriers: 16
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
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  variant carriers: 31
genotype depth: GenotypeDepth
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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: 66
genotype depth: GenotypeDepth
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  variant carriers: 854
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
  all individuals: 1030
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2485
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  variant carriers: 3
hgvs: p.Asn483Ser
num of homozygotes: 13
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

X-53654434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654434
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654434
    reference: chr 0
allele count: 4
allele frequency: 4.558924093913836e-5
allele num: 87740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.208G>A
  hgvsp: ENST00000424562.1:c.208G>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.1416G>A
  hgvsp: ENST00000262854.6:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1416G>A
  hgvsp: ENST00000218328.8:c.1416G>A(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.1416G>A
  hgvsp: ENST00000342160.3:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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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: 8.25e1
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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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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro472Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

X-53654439-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654439
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654439
    reference: chr 0
allele count: 4
allele frequency: 4.558976053978276e-5
allele num: 87739
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1411T>C
  hgvsp: ENSP00000218328.8:p.Cys471Arg
  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.1411T>C
  hgvsp: ENSP00000340648.3:p.Cys471Arg
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.203T>C
  hgvsp: ENSP00000415122.1:p.Cys69Arg
  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.1411T>C
  hgvsp: ENSP00000262854.6:p.Cys471Arg
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 1056
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  variant carriers: 0
hgvs: p.Cys471Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

X-53654447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654447
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654447
    reference: chr 0
allele count: 1
allele frequency: 1.139834951898965e-5
allele num: 87732
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.1403G>A
  hgvsp: ENSP00000340648.3:p.Arg468Gln
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.195G>A
  hgvsp: ENSP00000415122.1:p.Arg66Gln
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1403G>A
  hgvsp: ENSP00000218328.8:p.Arg468Gln
  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.1403G>A
  hgvsp: ENSP00000262854.6:p.Arg468Gln
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
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genotype depth: GenotypeDepth
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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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Arg468Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

X-53654470-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654470
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654470
    reference: chr 0
allele count: 1
allele frequency: 1.14100545400607e-5
allele num: 87642
alternate allele: T
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.1384-4G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-4G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-4G>A
  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.1384-4G>A
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 14
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  variant carriers: 0
hgvs: c.1384-4G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

X-53654475-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654475
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654475
    reference: chr 0
allele count: 1
allele frequency: 1.141500388110132e-5
allele num: 87604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-9T>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.1384-9T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-9T>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.1384-9T>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  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 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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

X-53654488-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654488
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654488
    reference: chr 0
allele count: 1
allele frequency: 1.157099383266029e-5
allele num: 86423
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-22A>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.1384-22A>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.1384-22A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-22A>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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 (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-53654496-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654496
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654496
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 71894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-30A>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-30A>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.1384-30A>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.1384-30A>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 446
  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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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 depth: GenotypeDepth
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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: 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
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

X-53654497-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654497
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654497
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 66239
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-31G>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.1384-31G>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.1384-31G>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-31G>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 1.75e1
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num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

X-53654500-G-GTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654500
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654502
    reference: chr 0
allele count: 564
allele frequency: 1.707693705150332e-2
allele num: 33027
alternate allele: GTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-36_176-35dupTA
  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.1384-36_1384-35dupTA
  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.1384-36_1384-35dupTA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-36_1384-35dupTA
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 326
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  variant carriers: 9
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 92
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 14295
  bin: 2.5e0
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 1.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.75e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 3.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 1.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 12937
  bin: 7.5e0
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 6.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 6330
  bin: 9.75e1
  variant carriers: 447
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 2.75e1
  variant carriers: 76
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

X-53654500-G-GTATA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654500
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654504
    reference: chr 0
allele count: 2
allele frequency: 6.055651436703303e-5
allele num: 33027
alternate allele: GTATA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-38_176-35dupTATA
  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.1384-38_1384-35dupTATA
  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.1384-38_1384-35dupTATA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-38_1384-35dupTATA
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11703
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6330
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14295
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12937
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

X-53654500-GTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654500
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654498
    reference: chr 0
allele count: 5378
allele frequency: 1.628364671329518e-1
allele num: 33027
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.1384-36_1384-35delTA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-36_1384-35delTA
  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.1384-36_1384-35delTA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-36_176-35delTA
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.25e1
  variant carriers: 345
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 1.75e1
  variant carriers: 1811
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 2.75e1
  variant carriers: 647
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 2.5e0
  variant carriers: 407
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 7.5e0
  variant carriers: 3212
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 11703
  bin: 1.25e1
  variant carriers: 2955
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 2.25e1
  variant carriers: 962
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 264
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 2.25e1
  variant carriers: 258
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 1.25e1
  variant carriers: 247
genotype quality: GenotypeQuality
  all individuals: 12937
  bin: 7.5e0
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 6.75e1
  variant carriers: 259
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 222
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 2.75e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.75e1
  variant carriers: 285
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 6.25e1
  variant carriers: 184
genotype quality: GenotypeQuality
  all individuals: 6330
  bin: 9.75e1
  variant carriers: 5777
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.25e1
  variant carriers: 577
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.25e1
  variant carriers: 684
genotype quality: GenotypeQuality
  all individuals: 14295
  bin: 2.5e0
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 1.75e1
  variant carriers: 297
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 3.25e1
  variant carriers: 132
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.25e1
  variant carriers: 333
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 149
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.75e1
  variant carriers: 519
num of homozygotes: 4
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: GTA
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-53654500-GTATA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654500
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654496
    reference: chr 0
allele count: 51
allele frequency: 1.544191116359342e-3
allele num: 33027
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-38_1384-35delTATA
  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.1384-38_1384-35delTATA
  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.1384-38_1384-35delTATA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-38_176-35delTATA
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 7.5e0
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11703
  bin: 1.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6330
  bin: 9.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 1.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12937
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 14295
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.25e1
  variant carriers: 8
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: GTATA
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

X-53654500-GTATATATA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654500
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654492
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 33027
alternate allele: G
canonical: false
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14295
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6330
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12937
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3342
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1932
  num of homozygotes: 0
population: Other
  type: Population
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  allele frequency: 0.0e0
  allele num: 284
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1923
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: GTATATATA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-53654502-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654502
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654502
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 8273
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.1384-36T>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.1384-36T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-36T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-36T>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: AC_Adj0_Filter
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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

X-53654503-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654503
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654503
    reference: chr 0
allele count: 1
allele frequency: 9.949258780220874e-5
allele num: 10051
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-37A>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.1384-37A>G
  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
annotation: Annotation
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  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
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  gene symbol: HUWE1
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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

X-53654504-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654504
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654504
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 29769
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-38T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-38T>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.1384-38T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
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  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.1384-38T>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
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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 quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
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site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
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X-53654506-ATATATATATATATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654506
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654492
    reference: chr 0
allele count: 1
allele frequency: 3.097797466001673e-5
allele num: 32281
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  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
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
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  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
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  ensembl protein: ENSP00000415122
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  gene symbol: HUWE1
  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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num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: ATATATATATATATT
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site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
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site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

X-53654510-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654510
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654510
    reference: chr 0
allele count: 1
allele frequency: 3.038128512836093e-5
allele num: 32915
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.1384-44T>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.1384-44T>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-44T>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-44T>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
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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: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 17752
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 288
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

X-53654511-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654511
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654511
    reference: chr 0
allele count: 1
allele frequency: 3.230600245525618e-5
allele num: 30954
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.1384-45A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-45A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-45A>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.1384-45A>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  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
  all individuals: 406
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
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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: 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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4912
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17121
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genotype quality: GenotypeQuality
  all individuals: 9387
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genotype quality: GenotypeQuality
  all individuals: 1910
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
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genotype quality: GenotypeQuality
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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: 1402
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

X-53654512-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654512
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654512
    reference: chr 0
allele count: 5
allele frequency: 1.603129308410016e-4
allele num: 31189
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.1384-46T>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.1384-46T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-46T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-46T>C
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
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
  all individuals: 311
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
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genotype depth: GenotypeDepth
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  variant carriers: 2
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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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 (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

X-53654515-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654515
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654514
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 29509
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.1384-50delT
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-50delT
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-50delT
  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.1384-50delT
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 416
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: TA
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

X-53654516-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654516
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654516
    reference: chr 0
allele count: 48
allele frequency: 1.708671507902606e-3
allele num: 28092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-50T>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.1384-50T>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.1384-50T>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-50T>A
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16478
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16518
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4344
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16429
  bin: 7.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5017
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 7388
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

X-53654517-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654517
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654516
    reference: chr 0
allele count: 2
allele frequency: 7.002310762551643e-5
allele num: 28562
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.1384-52delT
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-52delT
  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.1384-52delT
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-52delT
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16484
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16676
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 4.75e1
  variant carriers: 1
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
  all individuals: 1296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7756
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16858
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4367
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4887
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: TA
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

X-53654518-A-ATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654518
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654520
    reference: chr 0
allele count: 24
allele frequency: 9.430996541967935e-4
allele num: 25448
alternate allele: ATT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.1384-54_1384-53dupAA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-54_1384-53dupAA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-54_176-53dupAA
  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.1384-54_1384-53dupAA
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16571
  bin: 7.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16700
  bin: 2.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 666
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9986
  bin: 2.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15021
  bin: 7.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1002
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 9.75e1
  variant carriers: 16
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

X-53654518-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654518
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654518
    reference: chr 0
allele count: 327
allele frequency: 1.284973278843131e-2
allele num: 25448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-52T>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-52T>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.1384-52T>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.1384-52T>A
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 16571
  bin: 7.5e0
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 16700
  bin: 2.5e0
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 1.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 1.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 2.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 9986
  bin: 2.5e0
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 15021
  bin: 7.5e0
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 3.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 6.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 1.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 6518
  bin: 2.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 6.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.25e1
  variant carriers: 12
num of homozygotes: 2
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-53654518-ATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654518
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654516
    reference: chr 0
allele count: 1
allele frequency: 3.929581892486639e-5
allele num: 25448
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.1384-54_1384-53delAA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1384-54_1384-53delAA
  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.1384-54_1384-53delAA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.176-54_176-53delAA
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: ATT
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-53654639-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654639
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654639
    reference: chr 0
allele count: 1
allele frequency: 1.235010065332032e-5
allele num: 80971
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1383+51A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.175+51A>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.1383+51A>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.1383+51A>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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
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site quality: DP

X-53654643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654643
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654643
    reference: chr 0
allele count: 2
allele frequency: 2.471821237888076e-5
allele num: 80912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.175+47C>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.1383+47C>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.1383+47C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1383+47C>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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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: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

X-53654645-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654645
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654645
    reference: chr 0
allele count: 1
allele frequency: 1.233364989701402e-5
allele num: 81079
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.1383+45A>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.1383+45A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1383+45A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.175+45A>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 quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

X-53654648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654648
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654648
    reference: chr 0
allele count: 3
allele frequency: 3.705258997603933e-5
allele num: 80966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1383+42C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.175+42C>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.1383+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.1383+42C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 3.25e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 551
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

X-53654658-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654658
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654658
    reference: chr 0
allele count: 1
allele frequency: 1.229029681066798e-5
allele num: 81365
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1383+32A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.175+32A>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.1383+32A>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.1383+32A>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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

X-53654666-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654666
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654666
    reference: chr 0
allele count: 1
allele frequency: 1.224214972149109e-5
allele num: 81685
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.175+24T>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1383+24T>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.1383+24T>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.1383+24T>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

X-53654679-TATA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654679
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654676
    reference: chr 0
allele count: 2
allele frequency: 2.423508027870342e-5
allele num: 82525
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1383+8_1383+10delTAT
  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.1383+8_1383+10delTAT
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.175+8_175+10delTAT
  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.1383+8_1383+10delTAT
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
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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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hgvs: c.1383+8_1383+10delTAT
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: TATA
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

X-53654700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654700
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654700
    reference: chr 0
allele count: 1
allele frequency: 1.19002284843869e-5
allele num: 84032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.165A>G
  hgvsp: ENSP00000415122.1:p.Tyr56Cys
  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.1373A>G
  hgvsp: ENSP00000340648.3:p.Tyr458Cys
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1373A>G
  hgvsp: ENSP00000218328.8:p.Tyr458Cys
  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.1373A>G
  hgvsp: ENSP00000262854.6:p.Tyr458Cys
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13560
  bin: 2.75e1
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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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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: 1205
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr458Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

X-53654702-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654702
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654702
    reference: chr 0
allele count: 1
allele frequency: 1.187126797013189e-5
allele num: 84237
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.1371T>G
  hgvsp: ENSP00000340648.3:p.Ile457Met
  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.1371T>G
  hgvsp: ENSP00000262854.6:p.Ile457Met
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.163T>G
  hgvsp: ENSP00000415122.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1371T>G
  hgvsp: ENSP00000218328.8:p.Ile457Met
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 473
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 1943
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  variant carriers: 0
hgvs: p.Ile457Met
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

X-53654705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654705
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654705
    reference: chr 0
allele count: 1
allele frequency: 1.184876239676766e-5
allele num: 84397
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.1368C>T
  hgvsp: ENST00000342160.3:c.1368C>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.1368C>T
  hgvsp: ENST00000262854.6:c.1368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.160C>T
  hgvsp: ENST00000424562.1:c.160C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1368C>T
  hgvsp: ENST00000218328.8:c.1368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1649
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 667
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  variant carriers: 0
hgvs: p.Phe456Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

X-53654712-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654712
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654712
    reference: chr 0
allele count: 1
allele frequency: 1.180149879034637e-5
allele num: 84735
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1361C>G
  hgvsp: ENSP00000218328.8:p.Ser454Cys
  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.1361C>G
  hgvsp: ENSP00000262854.6:p.Ser454Cys
  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.1361C>G
  hgvsp: ENSP00000340648.3:p.Ser454Cys
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.153C>G
  hgvsp: ENSP00000415122.1:p.Ser52Cys
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Ser454Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

X-53654723-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654723
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654723
    reference: chr 0
allele count: 1
allele frequency: 1.176719775952555e-5
allele num: 84982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1350T>C
  hgvsp: ENST00000218328.8:c.1350T>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.1350T>C
  hgvsp: ENST00000262854.6:c.1350T>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.1350T>C
  hgvsp: ENST00000342160.3:c.1350T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.142T>C
  hgvsp: ENST00000424562.1:c.142T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
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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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His450His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

X-53654731-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654731
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654731
    reference: chr 0
allele count: 3
allele frequency: 3.528498506268966e-5
allele num: 85022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.134C>T
  hgvsp: ENSP00000415122.1:p.Gln46Ter
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000262854
  ensembl transcript: ENST00000262854
  gene symbol: HUWE1
  hgvsc: ENST00000262854.6:c.1342C>T
  hgvsp: ENSP00000262854.6:p.Gln448Ter
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1342C>T
  hgvsp: ENSP00000218328.8:p.Gln448Ter
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000340648
  ensembl transcript: ENST00000342160
  gene symbol: HUWE1
  hgvsc: ENST00000342160.3:c.1342C>T
  hgvsp: ENSP00000340648.3:p.Gln448Ter
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14808
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4619
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln448Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

X-53654736-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654736
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654736
    reference: chr 0
allele count: 59
allele frequency: 7.309941520467836e-4
allele num: 80712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.129C>G
  hgvsp: ENSP00000415122.1:p.Ala44Gly
  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.1337C>G
  hgvsp: ENSP00000340648.3:p.Ala446Gly
  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.1337C>G
  hgvsp: ENSP00000262854.6:p.Ala446Gly
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1337C>G
  hgvsp: ENSP00000218328.8:p.Ala446Gly
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28099
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5630
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 3
hgvs: p.Ala446Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

X-53654792-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654792
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654792
    reference: chr 0
allele count: 1
allele frequency: 1.186577436043476e-5
allele num: 84276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1281A>G
  hgvsp: ENST00000218328.8:c.1281A>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.1281A>G
  hgvsp: ENST00000262854.6:c.1281A>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.1281A>G
  hgvsp: ENST00000342160.3:c.1281A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.73A>G
  hgvsp: ENST00000424562.1:c.73A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15815
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4446
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr427Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

X-53654800-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654800
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654800
    reference: chr 0
allele count: 1
allele frequency: 1.192150878615198e-5
allele num: 83882
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.1273C>G
  hgvsp: ENSP00000262854.6:p.Gln425Glu
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1273C>G
  hgvsp: ENSP00000218328.8:p.Gln425Glu
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.65C>G
  hgvsp: ENSP00000415122.1:p.Gln23Glu
  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.1273C>G
  hgvsp: ENSP00000340648.3:p.Gln425Glu
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15766
  bin: 2.75e1
  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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  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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  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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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4444
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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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
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln425Glu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

X-53654813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654813
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654813
    reference: chr 0
allele count: 1
allele frequency: 1.205661787755299e-5
allele num: 82942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1260C>T
  hgvsp: ENST00000218328.8:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.52C>T
  hgvsp: ENST00000424562.1:c.52C>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.1260C>T
  hgvsp: ENST00000262854.6:c.1260C>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.1260C>T
  hgvsp: ENST00000342160.3:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 77
  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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genotype depth: GenotypeDepth
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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: 7052
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly420Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-53654838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654838
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654838
    reference: chr 0
allele count: 2
allele frequency: 2.478898377561012e-5
allele num: 80681
alternate allele: A
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.1243-8C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1243-8C>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.1243-8C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.35-8C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 7.5e0
  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 278
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  variant carriers: 0
hgvs: c.1243-8C>T
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

X-53654849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654849
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654849
    reference: chr 0
allele count: 1
allele frequency: 1.25726068042948e-5
allele num: 79538
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.1243-19C>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.1243-19C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1243-19C>T
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.35-19C>T
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

X-53654849-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654849
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654849
    reference: chr 0
allele count: 1
allele frequency: 1.25726068042948e-5
allele num: 79538
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.1243-19C>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1243-19C>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.1243-19C>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.35-19C>G
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

X-53654851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654851
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654851
    reference: chr 0
allele count: 1
allele frequency: 1.262419047378587e-5
allele num: 79213
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.1243-21G>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.1243-21G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1243-21G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
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  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
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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: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
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site quality: DP

X-53654875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654875
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654875
    reference: chr 0
allele count: 8
allele frequency: 1.054407423028258e-4
allele num: 75872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1243-45G>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.1243-45G>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.1243-45G>A
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
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  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.35-45G>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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num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
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X-53654878-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053654878
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053654878
    reference: chr 0
allele count: 2
allele frequency: 2.658195882454578e-5
allele num: 75239
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.35-48T>C
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1243-48T>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.1243-48T>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.1243-48T>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 quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

X-53655396-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053655396
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053655396
    reference: chr 0
allele count: 1
allele frequency: 8.114248620577734e-5
allele num: 12324
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.1242+48A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.34+48A>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.1242+48A>G
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1242+48A>G
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

X-53655412-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053655412
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053655411
    reference: chr 0
allele count: 1
allele frequency: 8.239947264337508e-5
allele num: 12136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000218328
  ensembl transcript: ENST00000218328
  gene symbol: HUWE1
  hgvsc: ENST00000218328.8:c.1242+31delA
  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.1242+31delA
  variant of: http://identifiers.org/hgnc/30892
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.34+31delA
  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.1242+31delA
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: GT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

X-53655415-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24053655415
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24053655416
    reference: chr 0
allele count: 187
allele frequency: 3.67170626349892e-2
allele num: 5093
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000086758
  ensembl protein: ENSP00000415122
  ensembl transcript: ENST00000424562
  gene symbol: HUWE1
  hgvsc: ENST00000424562.1:c.34+28dupT
  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.1242+28dupT
  variant of: http://identifiers.org/hgnc/30892
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 2403
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6459
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44332
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.015125367982946e-4
allele num: 9851
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 581
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6747
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.311e0

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.198e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

MQ
type: SiteQuality
SIO_000300: 5.438e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

QD
type: SiteQuality
SIO_000300: 3.462e1

DP
type: SiteQuality
SIO_000300: 1.805162e6

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 585
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.250376938137138e-5
allele num: 44437
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9181
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9861
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.343e0

FS
type: SiteQuality
SIO_000300: 2.113e0

QD
type: SiteQuality
SIO_000300: 2.748e1

MQ
type: SiteQuality
SIO_000300: 5.766e1

VQSLOD
type: SiteQuality
SIO_000300: -1.509e0

DP
type: SiteQuality
SIO_000300: 1.81445e6

GenotypeQuality
all individuals: 806
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6859
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6990
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.631773969430292e-4
allele num: 6477
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44621
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6787
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9193
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9895
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.843e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

QD
type: SiteQuality
SIO_000300: 3.323e1

DP
type: SiteQuality
SIO_000300: 1.826341e6

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35156
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4525
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6787
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.010203050813213e-4
allele num: 9899
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.316e1

DP
type: SiteQuality
SIO_000300: 1.828169e6

VQSLOD
type: SiteQuality
SIO_000300: -5.399e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

MQ
type: SiteQuality
SIO_000300: 5.877e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 35156
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9201
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6479
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.020406101626427e-4
allele num: 9899
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44652
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.828845e6

VQSLOD
type: SiteQuality
SIO_000300: -4.189e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

QD
type: SiteQuality
SIO_000300: 3.134e1

MQRankSum
type: SiteQuality
SIO_000300: -1.534e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.534e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6477
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44667
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.010917913465427e-4
allele num: 9892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6790
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQ
type: SiteQuality
SIO_000300: 5.748e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.830486e6

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 3.02e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e0

VQSLOD
type: SiteQuality
SIO_000300: -1.847e0

GenotypeQuality
all individuals: 35286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9889
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.543924656476764e-4
allele num: 6477
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6791
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44664
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-1

DP
type: SiteQuality
SIO_000300: 1.830347e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.198e0

QD
type: SiteQuality
SIO_000300: 9.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

MQ
type: SiteQuality
SIO_000300: 5.755e1

FS
type: SiteQuality
SIO_000300: 6.820000000000001e-1

GenotypeQuality
all individuals: 6848
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17170
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6221
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.327855114297686e-5
allele num: 42958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4425
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.581349e6

MQ
type: SiteQuality
SIO_000300: 5.521e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.769e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeQuality
all individuals: 1124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13337
bin: 6.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.353051908325098e-5
allele num: 42498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8899
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6121
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.371324089593174e-3
allele num: 6563
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

DP
type: SiteQuality
SIO_000300: 1.534285e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.781e1

QD
type: SiteQuality
SIO_000300: 2.087e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-1

GenotypeQuality
all individuals: 1679
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.108486167236556e-4
allele num: 6434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5885
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4323
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9042
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.296e-1

DP
type: SiteQuality
SIO_000300: 1.475527e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQ
type: SiteQuality
SIO_000300: 5.605e1

QD
type: SiteQuality
SIO_000300: 1.449e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

GenotypeQuality
all individuals: 2008
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variant carriers: 0

GenotypeQuality
all individuals: 1386
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GenotypeQuality
all individuals: 1657
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6419
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5869
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40824
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.110740864156392e-4
allele num: 9003
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.725e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.37e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.066e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.303e0

QD
type: SiteQuality
SIO_000300: 3.324e1

DP
type: SiteQuality
SIO_000300: 1.473051e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 613
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4491
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.937537109606935e-4
allele num: 8421
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46676
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.993e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

FS
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.354e1

DP
type: SiteQuality
SIO_000300: 1.784385e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 361
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6467
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.7534165181224e-4
allele num: 8415
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9227
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9721
num of homozygotes: 0

Other
type: Population
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: 4481
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.146751964278047e-5
allele num: 46582
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.273e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.789846e6

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

GenotypeQuality
all individuals: 1108
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4497
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6493
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.136432584869784e-5
allele num: 46807
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9795
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.799e1

DP
type: SiteQuality
SIO_000300: 1.814648e6

VQSLOD
type: SiteQuality
SIO_000300: -8.008e-1

GenotypeQuality
all individuals: 1120
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9797
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.134107302915191e-5
allele num: 46858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6505
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.835744e6

QD
type: SiteQuality
SIO_000300: 1.472e1

GenotypeQuality
all individuals: 2204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2475
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 617
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4497
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9819
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.53444836581249e-4
allele num: 6517
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46911
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.852434e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.71e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8469
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9287
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.112958776174277e-5
allele num: 47327
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9899
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: -3.034e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.77e-2

QD
type: SiteQuality
SIO_000300: 2.992e1

DP
type: SiteQuality
SIO_000300: 1.90589e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.006238679814852e-4
allele num: 9938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8477
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47467
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.086e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.26e-2

QD
type: SiteQuality
SIO_000300: 3.032e1

DP
type: SiteQuality
SIO_000300: 1.91876e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.098063487401129e-5
allele num: 47663
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9305
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.889e1

DP
type: SiteQuality
SIO_000300: 1.936769e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.024e1

FS
type: SiteQuality
SIO_000300: 3.995e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.08776984425237e-5
allele num: 47898
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10065
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 3.284e1

DP
type: SiteQuality
SIO_000300: 1.954633e6

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.83e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10073
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.087159792953749e-5
allele num: 47912
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.55e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

QD
type: SiteQuality
SIO_000300: 3.307e1

VQSLOD
type: SiteQuality
SIO_000300: -2.93e0

DP
type: SiteQuality
SIO_000300: 1.955397e6

GenotypeQuality
all individuals: 1119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2210
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
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: 5
allele frequency: 1.042491972811809e-4
allele num: 47962
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.84e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 1.959066e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.787e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.061e1

GenotypeQuality
all individuals: 2542
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.507159005275056e-4
allele num: 6635
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47976
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.227e1

DP
type: SiteQuality
SIO_000300: 1.960158e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.415e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

GenotypeQuality
all individuals: 2391
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3129
bin: 9.75e1
variant carriers: 1429

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 3

South Asian
type: Population
allele count: 4
allele frequency: 3.953741227636651e-4
allele num: 10117
num of homozygotes: 0

Other
type: Population
allele count: 14
allele frequency: 2.211690363349131e-2
allele num: 633
num of homozygotes: 0

Latino
type: Population
allele count: 84
allele frequency: 9.010941857970392e-3
allele num: 9322
num of homozygotes: 1

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

African
type: Population
allele count: 29
allele frequency: 3.407755581668625e-3
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1284
allele frequency: 2.676282385309628e-2
allele num: 47977
num of homozygotes: 12

European (Finnish)
type: Population
allele count: 61
allele frequency: 1.347173144876325e-2
allele num: 4528
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.389e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.767e1

DP
type: SiteQuality
SIO_000300: 2.085523e6

GenotypeQuality
all individuals: 345
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2472
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.349624060150376e-4
allele num: 8512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 2.14569252226156e-4
allele num: 9321
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47988
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

FS
type: SiteQuality
SIO_000300: 6.14e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

DP
type: SiteQuality
SIO_000300: 1.966581e6

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083810873325137e-5
allele num: 47989
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8511
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.218884120171674e-4
allele num: 9320
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.147e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 2.303e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.458e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

FS
type: SiteQuality
SIO_000300: 4.683e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.966473e6

GenotypeQuality
all individuals: 2471
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

FS
type: SiteQuality
SIO_000300: 3.902e0

VQSLOD
type: SiteQuality
SIO_000300: -1.065e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e-1

QD
type: SiteQuality
SIO_000300: 1.88e1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

DP
type: SiteQuality
SIO_000300: 1.966051e6

MQ
type: SiteQuality
SIO_000300: 5.851e1

GenotypeQuality
all individuals: 2557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2449
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.086245384182088e-5
allele num: 47933
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.55e0

DP
type: SiteQuality
SIO_000300: 1.953622e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.268e0

VQSLOD
type: SiteQuality
SIO_000300: -4.744e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.435e0

MQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.174e1

GenotypeQuality
all individuals: 1787
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8491
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.087421199849706e-5
allele num: 47906
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.938515e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.135e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.57e-1

QD
type: SiteQuality
SIO_000300: 2.959e1

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9263
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9923
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.118015842758504e-5
allele num: 47214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6567
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.568e0

DP
type: SiteQuality
SIO_000300: 1.806175e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.033e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 2.964e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.736e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

GenotypeQuality
all individuals: 760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8305
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 527
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.819e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQ
type: SiteQuality
SIO_000300: 3.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
SIO_000300: 1.580552e6

QD
type: SiteQuality
SIO_000300: 2.29e0

GenotypeQuality
all individuals: 1735
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7755
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.53239e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 2.37e0

VQSLOD
type: SiteQuality
SIO_000300: -3.012e0

MQ
type: SiteQuality
SIO_000300: 3.979e1

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

GenotypeQuality
all individuals: 502
bin: 6.25e1
variant carriers: 62

GenotypeQuality
all individuals: 582
bin: 4.75e1
variant carriers: 50

GenotypeQuality
all individuals: 5929
bin: 2.25e1
variant carriers: 47

Other
type: Population
allele count: 2
allele frequency: 7.042253521126761e-3
allele num: 284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.175983436853002e-4
allele num: 1932
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 6.074766355140187e-3
allele num: 4280
num of homozygotes: 0

South Asian
type: Population
allele count: 241
allele frequency: 5.794662178408271e-2
allele num: 4159
num of homozygotes: 0

African
type: Population
allele count: 35
allele frequency: 1.047277079593058e-2
allele num: 3342
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 7.280291211648466e-3
allele num: 1923
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 245
allele frequency: 1.432162272753843e-2
allele num: 17107
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.588e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

DP
type: SiteQuality
SIO_000300: 1.073033e6

QD
type: SiteQuality
SIO_000300: 6.05e0

GenotypeQuality
all individuals: 505
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 662
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1991
bin: 3.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4159
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.200208008320333e-4
allele num: 1923
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.845560296954463e-5
allele num: 17107
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.588e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

QD
type: SiteQuality
SIO_000300: 6.05e0

DP
type: SiteQuality
SIO_000300: 1.073033e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 542
bin: 5.25e1
variant carriers: 351

GenotypeQuality
all individuals: 810
bin: 8.75e1
variant carriers: 735

GenotypeQuality
all individuals: 506
bin: 4.25e1
variant carriers: 181

African
type: Population
allele count: 633
allele frequency: 1.894075403949731e-1
allele num: 3342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2640
allele frequency: 1.543227918395978e-1
allele num: 17107
num of homozygotes: 4

South Asian
type: Population
allele count: 526
allele frequency: 1.264727097860062e-1
allele num: 4159
num of homozygotes: 0

Other
type: Population
allele count: 41
allele frequency: 1.443661971830986e-1
allele num: 284
num of homozygotes: 0

Latino
type: Population
allele count: 994
allele frequency: 2.322429906542056e-1
allele num: 4280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 275
allele frequency: 1.423395445134576e-1
allele num: 1932
num of homozygotes: 0

East Asian
type: Population
allele count: 269
allele frequency: 1.39885595423817e-1
allele num: 1923
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.073033e6

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

QD
type: SiteQuality
SIO_000300: 6.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.588e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 1991
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 661
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1024
bin: 3.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.175983436853002e-4
allele num: 1932
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 3.291442250149611e-3
allele num: 3342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 2.102803738317757e-3
allele num: 4280
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 2.080083203328133e-3
allele num: 1923
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 1.344478868299527e-3
allele num: 17107
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 7.21327242125511e-4
allele num: 4159
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.588e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.073033e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

QD
type: SiteQuality
SIO_000300: 6.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17107
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4159
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4280
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.05e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.073033e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.588e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

GenotypeQuality
all individuals: 49
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 251
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 543
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 77
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1153
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1481
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.548e1

VQSLOD
type: SiteQuality
SIO_000300: -2.794e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.468e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.1591e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.45e-1

GenotypeQuality
all individuals: 414
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 577
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1239
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.154243860404998e-4
allele num: 4642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 103
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.726e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e0

VQSLOD
type: SiteQuality
SIO_000300: -1.863e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.802e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

DP
type: SiteQuality
SIO_000300: 8.7446e5

QD
type: SiteQuality
SIO_000300: 1.168e1

MQ
type: SiteQuality
SIO_000300: 5.987e1

GenotypeQuality
all individuals: 8327
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2308
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3013
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.436e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.98e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.414e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

DP
type: SiteQuality
SIO_000300: 6.34989e5

QD
type: SiteQuality
SIO_000300: 4.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 17149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.550075325866247e-5
allele num: 15267
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3369
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1669
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

QD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.92e-1

DP
type: SiteQuality
SIO_000300: 6.12637e5

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 3.167e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.74e-2

GenotypeQuality
all individuals: 382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3435
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1717
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15618
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.272727272727272e-4
allele num: 1375
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.97483e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

VQSLOD
type: SiteQuality
SIO_000300: -2.627e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.41e-2

QD
type: SiteQuality
SIO_000300: 2.888e1

GenotypeQuality
all individuals: 378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3329
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.877106113747335e-5
allele num: 14541
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.86e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.352e-1

DP
type: SiteQuality
SIO_000300: 5.86233e5

QD
type: SiteQuality
SIO_000300: 3.32e1

GenotypeQuality
all individuals: 380
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4747
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14641
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 9.433962264150943e-4
allele num: 5300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1285
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.073e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.67e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.29e0

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.62e-1

DP
type: SiteQuality
SIO_000300: 5.85254e5

GenotypeQuality
all individuals: 729
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1559
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13723
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4399
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

DP
type: SiteQuality
SIO_000300: 5.76237e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1455
bin: 9.75e1
variant carriers: 49

GenotypeQuality
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 5.25e1
variant carriers: 2

East Asian
type: Population
allele count: 2
allele frequency: 1.821493624772313e-3
allele num: 1098
num of homozygotes: 0

African
type: Population
allele count: 30
allele frequency: 9.800718719372754e-3
allele num: 3061
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 2.147598594299102e-3
allele num: 5122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.682261657832066e-5
allele num: 13017
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 9.803921568627451e-4
allele num: 4080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 231
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1483
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 3.071e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.57e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 5.74308e5

QD
type: SiteQuality
SIO_000300: 1.976e1

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 664
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1501
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.515266308053641e-4
allele num: 13199
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4169
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3167
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1139
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 235
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

MQ
type: SiteQuality
SIO_000300: 6.011e1

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 5.74228e5

GenotypeQuality
all individuals: 6518
bin: 2.25e1
variant carriers: 10

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3966
bin: 1.25e1
variant carriers: 7

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1350
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 1.054629824931449e-3
allele num: 4741
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 982
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 6.884057971014493e-3
allele num: 2760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 223
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.876e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.592e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.72456e5

FS
type: SiteQuality
SIO_000300: 6.205e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

GenotypeQuality
all individuals: 3966
bin: 1.25e1
variant carriers: 46

GenotypeQuality
all individuals: 666
bin: 4.25e1
variant carriers: 14

GenotypeQuality
all individuals: 1668
bin: 9.75e1
variant carriers: 321

Other
type: Population
allele count: 5
allele frequency: 2.242152466367713e-2
allele num: 223
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 64
allele frequency: 5.424648245465333e-3
allele num: 11798
num of homozygotes: 0

African
type: Population
allele count: 169
allele frequency: 6.123188405797102e-2
allele num: 2760
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 3
allele frequency: 2.222222222222222e-3
allele num: 1350
num of homozygotes: 0

East Asian
type: Population
allele count: 29
allele frequency: 2.953156822810591e-2
allele num: 982
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 7.234279354479688e-3
allele num: 3594
num of homozygotes: 0

South Asian
type: Population
allele count: 31
allele frequency: 6.538704914574985e-3
allele num: 4741
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.592e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.876e-1

DP
type: SiteQuality
SIO_000300: 5.72456e5

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

FS
type: SiteQuality
SIO_000300: 6.205e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
all individuals: 773
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 223
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4741
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.623188405797101e-4
allele num: 2760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11798
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

DP
type: SiteQuality
SIO_000300: 5.72456e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.592e1

FS
type: SiteQuality
SIO_000300: 6.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.876e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
all individuals: 661
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4614
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.113461752588799e-4
allele num: 8981
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44009
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8991
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7867
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6259
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.35e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

DP
type: SiteQuality
SIO_000300: 1.328516e6

GenotypeQuality
all individuals: 651
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4623
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6247
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8979
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.546281142025823e-5
allele num: 43992
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

DP
type: SiteQuality
SIO_000300: 1.335048e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 2.215e1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

GenotypeQuality
all individuals: 4965
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4871
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9001
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8987
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44097
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.595150741745095e-4
allele num: 6269
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4276
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQ
type: SiteQuality
SIO_000300: 5.813e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

DP
type: SiteQuality
SIO_000300: 1.341319e6

VQSLOD
type: SiteQuality
SIO_000300: -2.186e0

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.01e-1

QD
type: SiteQuality
SIO_000300: 2.995e1

GenotypeQuality
all individuals: 1151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1817
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7855
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4271
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44014
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.337412392924686e-4
allele num: 8989
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.082e0

VQSLOD
type: SiteQuality
SIO_000300: -1.816e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

DP
type: SiteQuality
SIO_000300: 1.352085e6

QD
type: SiteQuality
SIO_000300: 3.135e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeQuality
all individuals: 4436
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4628
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7889
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 593
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.105460977227504e-4
allele num: 9046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9009
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44254
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

QD
type: SiteQuality
SIO_000300: 3.073e1

DP
type: SiteQuality
SIO_000300: 1.387767e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1608
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44441
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.587805652588123e-4
allele num: 6298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4303
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7925
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.425056e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

QD
type: SiteQuality
SIO_000300: 1.55e1

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 1.688e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 1673
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30573
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6363
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 601
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9199
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8045
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.454640621867831e-5
allele num: 44897
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.873e1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.963e1

DP
type: SiteQuality
SIO_000300: 1.473353e6

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

GenotypeQuality
all individuals: 4638
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1439
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9157
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8243
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.184598580010923e-5
allele num: 45775
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 601
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.518e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

VQSLOD
type: SiteQuality
SIO_000300: -1.464e0

QD
type: SiteQuality
SIO_000300: 1.687e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.528157e6

GenotypeQuality
all individuals: 752
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35522
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45882
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.209774981853375e-4
allele num: 8266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9425
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.688e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.205e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

MQRankSum
type: SiteQuality
SIO_000300: -1.109e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.535463e6

QD
type: SiteQuality
SIO_000300: 1.829e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

GenotypeQuality
all individuals: 552
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1208
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variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.08991825613079e-4
allele num: 9175
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9449
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8283
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 3.296e0

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.246e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.713e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.541336e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8331
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9509
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 605
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.166659444468518e-5
allele num: 46154
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.184e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.78e-2

DP
type: SiteQuality
SIO_000300: 1.551068e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6533
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.15973392078096e-5
allele num: 46302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4425
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

DP
type: SiteQuality
SIO_000300: 1.559159e6

MQRankSum
type: SiteQuality
SIO_000300: -1.732e0

VQSLOD
type: SiteQuality
SIO_000300: -3.639e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8365
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4403
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.472491909385113e-5
allele num: 46350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9211
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9545
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

FS
type: SiteQuality
SIO_000300: 7.533199999999999e1

DP
type: SiteQuality
SIO_000300: 1.566957e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.697e1

QD
type: SiteQuality
SIO_000300: 5.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

GenotypeQuality
all individuals: 35000
bin: 6.25e1
variant carriers: 4

GenotypeQuality
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bin: 7.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 824
bin: 5.25e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 2.216716651453905e-3
allele num: 7669
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 2.49100470523111e-3
allele num: 3613
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.047010784211077e-4
allele num: 9551
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 7.307437601333607e-4
allele num: 43791
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.981e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.648e0

DP
type: SiteQuality
SIO_000300: 1.639551e6

VQSLOD
type: SiteQuality
SIO_000300: -4.157e2

MQ
type: SiteQuality
SIO_000300: 5.935e1

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.207e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

QD
type: SiteQuality
SIO_000300: 8.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 544
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 607
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6455
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9195
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.178981544026322e-5
allele num: 45893
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.745e0

DP
type: SiteQuality
SIO_000300: 1.553042e6

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.456e0

QD
type: SiteQuality
SIO_000300: 2.339e1

GenotypeQuality
all individuals: 1676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34612
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variant carriers: 0

GenotypeQuality
all individuals: 675
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variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8281
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9183
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.190100744634253e-5
allele num: 45660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4403
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 605
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.668e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.754e0

QD
type: SiteQuality
SIO_000300: 4.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 1.54474e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.216950805861618e-5
allele num: 45107
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8203
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4361
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9131
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 601
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9182
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

QD
type: SiteQuality
SIO_000300: 2.477e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.293e0

DP
type: SiteQuality
SIO_000300: 1.520314e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8896
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
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European (Finnish)
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allele count: 1
allele frequency: 2.344116268166901e-4
allele num: 4266
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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.283939338571168e-5
allele num: 43784
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

QD
type: SiteQuality
SIO_000300: 2.991e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

DP
type: SiteQuality
SIO_000300: 1.427905e6

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.437e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.318894351173361e-5
allele num: 43124
num of homozygotes: 0

African
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Latino
type: Population
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Other
type: Population
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South Asian
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.72e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.355435e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 1.144426642252232e-4
allele num: 8738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4216
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Other
type: Population
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allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

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

Latino
type: Population
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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South Asian
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allele frequency: 1.149029070435482e-4
allele num: 8703
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42923
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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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num of homozygotes: 0

African
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -2.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.511e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.634e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.281e0

DP
type: SiteQuality
SIO_000300: 1.341948e6

GenotypeQuality
all individuals: 660
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40923
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 9.127656800104316e-4
allele num: 7669
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.150483202945237e-4
allele num: 8692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5643
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 563
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.474e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.225e1

DP
type: SiteQuality
SIO_000300: 1.231747e6

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.799e0

GenotypeQuality
all individuals: 3966
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3499
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4434
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4051
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.43161094224924e-4
allele num: 8225
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7617
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

DP
type: SiteQuality
SIO_000300: 1.225443e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.139e0

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.44e-1

QD
type: SiteQuality
SIO_000300: 3.046e1

VQSLOD
type: SiteQuality
SIO_000300: -2.438e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 433
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.813565469713457e-4
allele num: 5514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1275
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4637
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 2.66578e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.473e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQ
type: SiteQuality
SIO_000300: 5.791e1

QD
type: SiteQuality
SIO_000300: 7.46e0

VQSLOD
type: SiteQuality
SIO_000300: -3.225e0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1191
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 123
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.835535976505139e-4
allele num: 5448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.766e1

QD
type: SiteQuality
SIO_000300: 7.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

DP
type: SiteQuality
SIO_000300: 2.7856e5

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.44e-1