X-101408893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101408893
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101408893
    reference: chr 0
allele count: 2
allele frequency: 2.421835266765155e-5
allele num: 82582
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.*9G>A
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 3' UTR
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 depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4529
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

X-101408925-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101408925
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101408925
    reference: chr 0
allele count: 1
allele frequency: 1.175060515616554e-5
allele num: 85102
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.313G>C
  hgvsp: ENSP00000446054.1:p.Asp105His
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.313G>C
  hgvsp: ENSP00000328030.3:p.Asp105His
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.75e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Asp105His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 609
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

X-101408928-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101408928
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101408928
    reference: chr 0
allele count: 1
allele frequency: 1.172058134083451e-5
allele num: 85320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.310C>A
  hgvsp: ENSP00000328030.3:p.His104Asn
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.310C>A
  hgvsp: ENSP00000446054.1:p.His104Asn
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 6.25e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.His104Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9302
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

X-101408938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101408938
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101408938
    reference: chr 0
allele count: 2
allele frequency: 2.326311749037489e-5
allele num: 85973
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.300C>T
  hgvsp: ENST00000333643.3:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.300C>T
  hgvsp: ENST00000543160.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.His100His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8798
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

X-101408963-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101408963
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101408963
    reference: chr 0
allele count: 1
allele frequency: 1.14370675358838e-5
allele num: 87435
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.275G>T
  hgvsp: ENSP00000328030.3:p.Arg92Leu
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.275G>T
  hgvsp: ENSP00000446054.1:p.Arg92Leu
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Arg92Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

X-101408963-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101408963
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101408963
    reference: chr 0
allele count: 1
allele frequency: 1.14370675358838e-5
allele num: 87435
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.275G>A
  hgvsp: ENSP00000328030.3:p.Arg92His
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.275G>A
  hgvsp: ENSP00000446054.1:p.Arg92His
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg92His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 629
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

X-101408964-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101408964
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101408964
    reference: chr 0
allele count: 1
allele frequency: 1.142909390143549e-5
allele num: 87496
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.274C>T
  hgvsp: ENSP00000446054.1:p.Arg92Cys
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.274C>T
  hgvsp: ENSP00000328030.3:p.Arg92Cys
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
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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hgvs: p.Arg92Cys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47916
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

X-101408964-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101408964
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101408964
    reference: chr 0
allele count: 1
allele frequency: 1.142909390143549e-5
allele num: 87496
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.274C>G
  hgvsp: ENSP00000446054.1:p.Arg92Gly
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.274C>G
  hgvsp: ENSP00000328030.3:p.Arg92Gly
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
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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hgvs: p.Arg92Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8516
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

X-101408979-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101408979
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101408979
    reference: chr 0
allele count: 1
allele frequency: 1.139964889081416e-5
allele num: 87722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.259T>C
  hgvsp: ENST00000333643.3:c.259T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.259T>C
  hgvsp: ENST00000543160.1:c.259T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  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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hgvs: p.Leu87Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
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site quality: DP
site quality: InbreedingCoeff
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X-101408986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101408986
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101408986
    reference: chr 0
allele count: 1
allele frequency: 1.139679066374909e-5
allele num: 87744
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.252A>G
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  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.252A>G
  hgvsp: ENST00000333643.3:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Glu84Glu
num of homozygotes: 0
population: South Asian
  type: Population
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  allele num: 10118
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
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site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
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X-101409010-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409010
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409010
    reference: chr 0
allele count: 2
allele frequency: 2.279046446966589e-5
allele num: 87756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.228A>T
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  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.228A>T
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  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: South Asian
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  allele num: 10123
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
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site quality: InbreedingCoeff
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X-101409019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409019
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409019
    reference: chr 0
allele count: 1
allele frequency: 1.139497253811618e-5
allele num: 87758
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.219G>A
  hgvsp: ENST00000543160.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.219G>A
  hgvsp: ENST00000333643.3:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: p.Glu73Glu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
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  allele num: 47995
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
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site quality: FS
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X-101409021-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409021
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409021
    reference: chr 0
allele count: 1
allele frequency: 1.139497253811618e-5
allele num: 87758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.217G>T
  hgvsp: ENSP00000328030.3:p.Glu73Ter
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.217G>T
  hgvsp: ENSP00000446054.1:p.Glu73Ter
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: stop gained
filter: PASS
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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.Glu73Ter
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10123
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

X-101409029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409029
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409029
    reference: chr 0
allele count: 1
allele frequency: 1.139562180210363e-5
allele num: 87753
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.209G>A
  hgvsp: ENSP00000328030.3:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.209G>A
  hgvsp: ENSP00000446054.1:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg70Gln
num of homozygotes: 0
population: Latino
  type: Population
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  allele num: 9323
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
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site quality: QD
site quality: MQ
site quality: VQSLOD
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X-101409036-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409036
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409036
    reference: chr 0
allele count: 1
allele frequency: 1.13954919433872e-5
allele num: 87754
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.202A>G
  hgvsp: ENSP00000446054.1:p.Met68Val
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.202A>G
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  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: South Asian
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  allele num: 10122
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population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
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site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
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X-101409040-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409040
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409040
    reference: chr 0
allele count: 1
allele frequency: 1.139497253811618e-5
allele num: 87758
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.198T>C
  hgvsp: ENST00000543160.1:c.198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.198T>C
  hgvsp: ENST00000333643.3:c.198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: p.Asp66Asp
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population: European (Finnish)
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  allele num: 4530
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population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
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reference allele: A
site quality: QD
site quality: DP
site quality: MQRankSum
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X-101409048-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409048
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409048
    reference: chr 0
allele count: 1
allele frequency: 1.139510238499493e-5
allele num: 87757
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.190G>C
  hgvsp: ENSP00000446054.1:p.Asp64His
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
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  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 20
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7403
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp64His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47995
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP

X-101409065-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409065
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409065
    reference: chr 0
allele count: 1
allele frequency: 1.139497253811618e-5
allele num: 87758
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.173T>C
  hgvsp: ENSP00000446054.1:p.Ile58Thr
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.173T>C
  hgvsp: ENSP00000328030.3:p.Ile58Thr
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  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 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
hgvs: p.Ile58Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

X-101409073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409073
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409073
    reference: chr 0
allele count: 1
allele frequency: 1.13954919433872e-5
allele num: 87754
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.165C>T
  hgvsp: ENST00000543160.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.165C>T
  hgvsp: ENST00000333643.3:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Val55Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10124
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum

X-101409073-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409073
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409073
    reference: chr 0
allele count: 1
allele frequency: 1.13954919433872e-5
allele num: 87754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.165C>A
  hgvsp: ENST00000333643.3:c.165C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.165C>A
  hgvsp: ENST00000543160.1:c.165C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
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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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hgvs: p.Val55Val
num of homozygotes: 0
population: Other
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  allele count: 0
  allele frequency: 0.0e0
  allele num: 633
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

X-101409078-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409078
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409078
    reference: chr 0
allele count: 1
allele frequency: 1.13947128532361e-5
allele num: 87760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.160C>A
  hgvsp: ENSP00000328030.3:p.Leu54Ile
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.160C>A
  hgvsp: ENSP00000446054.1:p.Leu54Ile
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Leu54Ile
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6638
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

X-101409096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409096
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409096
    reference: chr 0
allele count: 1
allele frequency: 1.13947128532361e-5
allele num: 87760
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.142G>A
  hgvsp: ENSP00000446054.1:p.Glu48Lys
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.142G>A
  hgvsp: ENSP00000328030.3:p.Glu48Lys
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu48Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47997
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

X-101409097-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409097
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409097
    reference: chr 0
allele count: 2
allele frequency: 2.27894257064722e-5
allele num: 87760
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.141A>G
  hgvsp: ENST00000543160.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.141A>G
  hgvsp: ENST00000333643.3:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 1984
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  variant carriers: 0
hgvs: p.Gly47Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8516
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

X-101409098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409098
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409098
    reference: chr 0
allele count: 1
allele frequency: 1.139484269419661e-5
allele num: 87759
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.140G>A
  hgvsp: ENSP00000328030.3:p.Gly47Glu
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.140G>A
  hgvsp: ENSP00000446054.1:p.Gly47Glu
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 3.75e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gly47Glu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9322
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

X-101409103-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409103
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409103
    reference: chr 0
allele count: 2
allele frequency: 2.279539988830254e-5
allele num: 87737
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.135T>G
  hgvsp: ENST00000543160.1:c.135T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.135T>G
  hgvsp: ENST00000333643.3:c.135T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gly45Gly
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6638
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

X-101409103-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409103
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409103
    reference: chr 0
allele count: 3
allele frequency: 3.419309983245381e-5
allele num: 87737
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.135T>C
  hgvsp: ENST00000543160.1:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.135T>C
  hgvsp: ENST00000333643.3:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  bin: 1.25e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 8778
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly45Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47980
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

X-101409106-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409106
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409106
    reference: chr 0
allele count: 1
allele frequency: 1.139458301523456e-5
allele num: 87761
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.132G>A
  hgvsp: ENST00000543160.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.132G>A
  hgvsp: ENST00000333643.3:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  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 quality: GenotypeQuality
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hgvs: p.Pro44Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

X-101409113-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409113
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409113
    reference: chr 0
allele count: 2
allele frequency: 2.278916603046912e-5
allele num: 87761
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.125C>A
  hgvsp: ENSP00000446054.1:p.Pro42His
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.125C>A
  hgvsp: ENSP00000328030.3:p.Pro42His
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Pro42His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

X-101409117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409117
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409117
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 87760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.121C>T
  hgvsp: ENSP00000328030.3:p.Pro41Ser
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.121C>T
  hgvsp: ENSP00000446054.1:p.Pro41Ser
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Pro41Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 633
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

X-101409136-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409136
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409136
    reference: chr 0
allele count: 2
allele frequency: 2.279228253313428e-5
allele num: 87749
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.102T>A
  hgvsp: ENSP00000446054.1:p.Asn34Lys
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.102T>A
  hgvsp: ENSP00000328030.3:p.Asn34Lys
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4543
  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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hgvs: p.Asn34Lys
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population: Other
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  allele frequency: 0.0e0
  allele num: 633
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population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
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X-101409144-C-T
type: Variant
location: Region
  begin: Position
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    type: ExactPosition
    position: 24101409144
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allele count: 1
allele frequency: 1.140042865611747e-5
allele num: 87716
alternate allele: T
annotation: Annotation
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  gene symbol: BEX5
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  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
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  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.94G>A
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  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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hgvs: p.Gly32Arg
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population: East Asian
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population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
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X-101409154-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409154
    reference: chr 0
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    type: ExactPosition
    position: 24101409154
    reference: chr 0
allele count: 1
allele frequency: 1.141200771451722e-5
allele num: 87627
alternate allele: C
annotation: Annotation
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  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: stop_gained
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  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: stop gained
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population: Other
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population: Latino
population: African
population: East Asian
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site quality: VQSLOD
site quality: InbreedingCoeff
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X-101409158-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409158
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409158
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allele count: 1
allele frequency: 1.14187838995147e-5
allele num: 87575
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.80A>T
  hgvsp: ENSP00000328030.3:p.Glu27Val
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.80A>T
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  variant of: http://identifiers.org/hgnc/27990
canonical: true
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hgvs: p.Glu27Val
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population: South Asian
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population: European (Finnish)
population: Other
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population: Latino
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X-101409173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409173
    reference: chr 0
  end: Position
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    position: 24101409173
    reference: chr 0
allele count: 1
allele frequency: 1.14640773137374e-5
allele num: 87229
alternate allele: A
annotation: Annotation
  canonical: true
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  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.65C>T
  hgvsp: ENSP00000446054.1:p.Ala22Val
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
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  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.65C>T
  hgvsp: ENSP00000328030.3:p.Ala22Val
  variant of: http://identifiers.org/hgnc/27990
canonical: true
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filter: PASS
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Ala22Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

X-101409176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409176
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409176
    reference: chr 0
allele count: 1
allele frequency: 1.147446930579461e-5
allele num: 87150
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.62C>T
  hgvsp: ENSP00000446054.1:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.62C>T
  hgvsp: ENSP00000328030.3:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Pro21Leu
num of homozygotes: 0
population: South Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 9716
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

X-101409177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409177
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409177
    reference: chr 0
allele count: 1
allele frequency: 1.14752593408611e-5
allele num: 87144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.61C>T
  hgvsp: ENSP00000328030.3:p.Pro21Ser
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.61C>T
  hgvsp: ENSP00000446054.1:p.Pro21Ser
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Pro21Ser
num of homozygotes: 0
population: African
  type: Population
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  allele num: 8451
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

X-101409191-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409191
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409191
    reference: chr 0
allele count: 1
allele frequency: 1.152538465971302e-5
allele num: 86765
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.47T>C
  hgvsp: ENSP00000446054.1:p.Val16Ala
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.47T>C
  hgvsp: ENSP00000328030.3:p.Val16Ala
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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hgvs: p.Val16Ala
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population: East Asian
  type: Population
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  allele num: 6629
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
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site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

X-101409217-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409217
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409217
    reference: chr 0
allele count: 2
allele frequency: 2.328478455753088e-5
allele num: 85893
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.21A>G
  hgvsp: ENST00000333643.3:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.21A>G
  hgvsp: ENST00000543160.1:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: synonymous
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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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hgvs: p.Glu7Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8953
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

X-101409222-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409222
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409221
    reference: chr 0
allele count: 1
allele frequency: 1.168005980190619e-5
allele num: 85616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.15delC
  hgvsp: ENSP00000328030.3:p.Lys6ArgfsTer18
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.15delC
  hgvsp: ENSP00000446054.1:p.Lys6ArgfsTer18
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Lys6ArgfsTer18
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9310
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: TG
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
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X-101409228-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409228
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409228
    reference: chr 0
allele count: 14
allele frequency: 1.642806852851443e-4
allele num: 85220
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.10G>A
  hgvsp: ENSP00000446054.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.10G>A
  hgvsp: ENSP00000328030.3:p.Val4Ile
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Val4Ile
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population: South Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 8527
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

X-101409236-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409236
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409236
    reference: chr 0
allele count: 2
allele frequency: 2.378460660260679e-5
allele num: 84088
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.2T>C
  hgvsp: ENSP00000446054.1:p.Met1?
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.2T>C
  hgvsp: ENSP00000328030.3:p.Met1?
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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hgvs: p.Met1?
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population: South Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 7846
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
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site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
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X-101409238-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409238
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409238
    reference: chr 0
allele count: 1
allele frequency: 1.200451369715013e-5
allele num: 83302
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-1C>A
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.127931225262799e-5
  allele num: 46994
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

X-101409243-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409243
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409244
    reference: chr 0
allele count: 1
allele frequency: 1.215849818230452e-5
allele num: 82247
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-7dupA
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-7dupA
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6907
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

X-101409243-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409243
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409243
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 82247
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-6C>A
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-6C>A
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 46629
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

X-101409243-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409243
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409242
    reference: chr 0
allele count: 1
allele frequency: 1.215849818230452e-5
allele num: 82247
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-7delA
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-7delA
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7882
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: GT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
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site quality: VQSLOD

X-101409247-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409247
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409247
    reference: chr 0
allele count: 1
allele frequency: 1.249297270285464e-5
allele num: 80045
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-10A>G
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7733
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

X-101409252-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409252
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409253
    reference: chr 0
allele count: 46
allele frequency: 6.057732827644332e-4
allele num: 75936
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-16dupA
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-16dupA
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 14
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 2.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 2.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 545
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genotype quality: GenotypeQuality
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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: 3751
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 1.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4684
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 8.25e1
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genotype quality: GenotypeQuality
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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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  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1181
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  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.25e1
  variant carriers: 5
num of homozygotes: 0
population: African
  type: Population
  allele count: 4
  allele frequency: 5.487721223761833e-4
  allele num: 7289
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

X-101409252-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409252
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409254
    reference: chr 0
allele count: 8
allele frequency: 1.053518752633797e-4
allele num: 75936
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-16_-15insAA
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-16_-15insAA
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 2991
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3751
  bin: 6.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 511
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

X-101409252-C-CTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409252
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409255
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 75936
alternate allele: CTTT
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-16_-15insAAA
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-16_-15insAAA
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  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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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 545
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
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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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1181
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4684
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 511
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

X-101409253-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409253
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409252
    reference: chr 0
allele count: 8
allele frequency: 1.154634413878706e-4
allele num: 69286
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-17delC
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-17delC
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 11
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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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
  variant carriers: 14
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4233
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 7
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2692
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 8.75e1
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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
  all individuals: 2391
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4934
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: TG
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

X-101409254-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409254
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409255
    reference: chr 0
allele count: 9892
allele frequency: 1.867577925878377e-1
allele num: 52967
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-18dupA
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-18dupA
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 1.25e1
  variant carriers: 3325
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 1.75e1
  variant carriers: 3867
genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1118
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 412
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 3.25e1
  variant carriers: 2139
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 2656
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 3210
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 475
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 4.25e1
  variant carriers: 943
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.75e1
  variant carriers: 1522
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 279
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 6.25e1
  variant carriers: 911
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 6.75e1
  variant carriers: 835
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 476
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 2.25e1
  variant carriers: 1023
genotype quality: GenotypeQuality
  all individuals: 2484
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  variant carriers: 979
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 4.25e1
  variant carriers: 1130
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 1.75e1
  variant carriers: 989
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 951
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 9.25e1
  variant carriers: 469
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 3.75e1
  variant carriers: 1132
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 3.25e1
  variant carriers: 1079
genotype quality: GenotypeQuality
  all individuals: 15264
  bin: 2.5e0
  variant carriers: 1002
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 4.75e1
  variant carriers: 1106
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 5.75e1
  variant carriers: 969
genotype quality: GenotypeQuality
  all individuals: 7948
  bin: 9.75e1
  variant carriers: 3461
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 758
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 620
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 5.25e1
  variant carriers: 1015
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 2.75e1
  variant carriers: 1072
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 5102
  allele frequency: 1.748637625526956e-1
  allele num: 29177
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

X-101409254-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409254
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409255
    reference: chr 0
allele count: 35
allele frequency: 6.607887930220704e-4
allele num: 52967
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-18_-17insG
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-18_-17insG
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 138
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genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9809
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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: 10
genotype depth: GenotypeDepth
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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: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  all individuals: 2443
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 364
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

X-101409254-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409254
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409256
    reference: chr 0
allele count: 485
allele frequency: 9.156644703305832e-3
allele num: 52967
alternate allele: GTT
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-19_-18dupAA
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-19_-18dupAA
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9809
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  variant carriers: 241
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 1.75e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 3.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 1.25e1
  variant carriers: 508
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 138
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 2.75e1
  variant carriers: 160
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 2.25e1
  variant carriers: 131
genotype quality: GenotypeQuality
  all individuals: 15264
  bin: 2.5e0
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 8.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 4.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 4.25e1
  variant carriers: 108
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 132
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 7.5e0
  variant carriers: 129
genotype quality: GenotypeQuality
  all individuals: 1860
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  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 5.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 3.25e1
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 6.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 60
genotype quality: GenotypeQuality
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  bin: 9.25e1
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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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  variant carriers: 76
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 129
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 29
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 249
  allele frequency: 8.534119340576482e-3
  allele num: 29177
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-101409254-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409254
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409254
    reference: chr 0
allele count: 639
allele frequency: 1.206411539260294e-2
allele num: 52967
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-17C>A
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-17C>A
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 1.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 2.25e1
  variant carriers: 332
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 2.75e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 4.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 1.75e1
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
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  bin: 3.25e1
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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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  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 138
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  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 7.5e0
  variant carriers: 152
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 1.25e1
  variant carriers: 164
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 5.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 3.25e1
  variant carriers: 92
genotype quality: GenotypeQuality
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  variant carriers: 14
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 187
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2.75e1
  variant carriers: 125
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 7948
  bin: 9.75e1
  variant carriers: 178
genotype quality: GenotypeQuality
  all individuals: 1860
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2371
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genotype quality: GenotypeQuality
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  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 2071
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  variant carriers: 57
num of homozygotes: 0
population: Other
  type: Population
  allele count: 5
  allele frequency: 1.373626373626374e-2
  allele num: 364
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

X-101409254-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409254
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409253
    reference: chr 0
allele count: 10035
allele frequency: 1.894575867993279e-1
allele num: 52967
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-18delA
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-18delA
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 1.25e1
  variant carriers: 2691
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 4.25e1
  variant carriers: 814
genotype depth: GenotypeDepth
  all individuals: 1257
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  variant carriers: 27
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 2139
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1485
genotype depth: GenotypeDepth
  all individuals: 85
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  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 7.5e0
  variant carriers: 575
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 2.25e1
  variant carriers: 3477
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 68
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 1.75e1
  variant carriers: 3980
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 33
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 293
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 482
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 2.75e1
  variant carriers: 2624
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 2.75e1
  variant carriers: 924
genotype quality: GenotypeQuality
  all individuals: 7948
  bin: 9.75e1
  variant carriers: 4100
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 962
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 564
num of homozygotes: 1
population: South Asian
  type: Population
  allele count: 695
  allele frequency: 1.914600550964187e-1
  allele num: 3630
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: GT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

X-101409254-GTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409254
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409252
    reference: chr 0
allele count: 255
allele frequency: 4.814318349160798e-3
allele num: 52967
alternate allele: G
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 2
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: 255
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 8
  allele frequency: 2.502345949327495e-3
  allele num: 3197
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population: European (Non-Finnish)
  type: Population
  allele count: 144
  allele frequency: 4.93539431744182e-3
  allele num: 29177
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population: Other
  type: Population
  allele count: 3
  allele frequency: 8.241758241758242e-3
  allele num: 364
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 11
  allele frequency: 3.03030303030303e-3
  allele num: 3630
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
reference allele: GTT
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

X-101409255-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409255
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409255
    reference: chr 0
allele count: 6
allele frequency: 2.989536621823617e-3
allele num: 2007
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-18A>G
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: East Asian
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  allele num: 65
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

X-101409255-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409255
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409255
    reference: chr 0
allele count: 3
allele frequency: 1.494768310911809e-3
allele num: 2007
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-18A>C
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-18A>C
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: Latino
  type: Population
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  allele num: 109
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
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X-101409256-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409256
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409256
    reference: chr 0
allele count: 1
allele frequency: 3.9913786221761e-5
allele num: 25054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-19A>G
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-19A>G
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
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  allele frequency: 6.643635397289396e-5
  allele num: 15052
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

X-101409257-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409257
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409257
    reference: chr 0
allele count: 1
allele frequency: 1.414867426922097e-5
allele num: 70678
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-20A>C
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-20A>C
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: East Asian
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  allele num: 5596
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population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
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site quality: MQ
site quality: VQSLOD
site quality: FS
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X-101409268-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409268
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409268
    reference: chr 0
allele count: 3
allele frequency: 3.959507437274803e-5
allele num: 75767
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-31A>G
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-31A>G
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: African
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  allele num: 7535
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population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
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site quality: VQSLOD

X-101409270-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409270
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409269
    reference: chr 0
allele count: 2
allele frequency: 2.761782454396067e-5
allele num: 72417
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-34delG
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-34delG
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: TC
site quality: MQ
site quality: ClippingRankSum
site quality: FS
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site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
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X-101409271-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409271
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409271
    reference: chr 0
allele count: 1
allele frequency: 1.645359264195337e-5
allele num: 60777
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-34G>A
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  allele num: 6239
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population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
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site quality: FS
site quality: MQRankSum
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X-101409277-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409277
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409277
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 71132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-37-3T>C
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
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  gene symbol: BEX5
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  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: c.-37-3T>C
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 39662
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
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site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
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site quality: DP

X-101409278-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409278
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409278
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 71296
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-37-4C>A
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-37-4C>A
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: c.-37-4C>A
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
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  allele frequency: 0.0e0
  allele num: 39788
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population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
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site quality: QD
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X-101409287-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101409287
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101409287
    reference: chr 0
allele count: 40
allele frequency: 5.77483902636214e-4
allele num: 69266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000328030
  ensembl transcript: ENST00000333643
  gene symbol: BEX5
  hgvsc: ENST00000333643.3:c.-37-13T>G
  variant of: http://identifiers.org/hgnc/27990
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184515
  ensembl protein: ENSP00000446054
  ensembl transcript: ENST00000543160
  gene symbol: BEX5
  hgvsc: ENST00000543160.1:c.-37-13T>G
  variant of: http://identifiers.org/hgnc/27990
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: European (Non-Finnish)
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  allele frequency: 8.566755795540095e-4
  allele num: 38521
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population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
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site quality: BaseQRankSum
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X-101473058-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101473058
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101473058
    reference: chr 0
allele count: 7
allele frequency: 1.940133037694013e-3
allele num: 3608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215046
  ensembl protein: ENSP00000409700
  ensembl transcript: ENST00000448512
  gene symbol: TCP11X1
  hgvsc: ENST00000448512.1:c.229A>G
  hgvsp: ENSP00000409700.1:p.Ser77Gly
  variant of: http://identifiers.org/hgnc/48369
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215046
  ensembl protein: ENSP00000333711
  ensembl transcript: ENST00000333110
  gene symbol: TCP11X1
  hgvsc: ENST00000333110.5:c.-27A>G
  variant of: http://identifiers.org/hgnc/48369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
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  ensembl gene: ENSG00000185554
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  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
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  consequence: splice_region_variant
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  ensembl gene: ENSG00000185554
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  gene symbol: NXF2
  hgvsc: ENST00000395088.2:c.-1570A>G
  variant of: http://identifiers.org/hgnc/8072
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Ser77Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: MQ
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site quality: VQSLOD
site quality: FS
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X-101479098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101479098
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101479098
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361844
  ensembl transcript: ENST00000372758
  gene symbol: NXF2
  hgvsc: ENST00000372758.1:c.-789C>T
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361849
  ensembl transcript: ENST00000372763
  gene symbol: NXF2
  hgvsc: ENST00000372763.1:c.-1592C>T
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215046
  ensembl protein: ENSP00000409700
  ensembl transcript: ENST00000448512
  gene symbol: TCP11X1
  hgvsc: ENST00000448512.1:c.*972C>T
  variant of: http://identifiers.org/hgnc/48369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215046
  ensembl transcript: ENST00000487514
  gene symbol: TCP11X1
  hgvsc: ENST00000487514.1:n.402C>T
  variant of: http://identifiers.org/hgnc/48369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000331471
  ensembl transcript: ENST00000330252
  gene symbol: NXF2
  hgvsc: ENST00000330252.5:c.-739C>T
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000378523
  ensembl transcript: ENST00000395088
  gene symbol: NXF2
  hgvsc: ENST00000395088.2:c.-847C>T
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215046
  ensembl protein: ENSP00000333711
  ensembl transcript: ENST00000333110
  gene symbol: TCP11X1
  hgvsc: ENST00000333110.5:c.667C>T
  hgvsp: ENSP00000333711.5:p.Arg223Trp
  variant of: http://identifiers.org/hgnc/48369
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  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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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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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg223Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

X-101479207-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101479207
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101479207
    reference: chr 0
allele count: 2
allele frequency: 1.333333333333333e-1
allele num: 15
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000331471
  ensembl transcript: ENST00000330252
  gene symbol: NXF2
  hgvsc: ENST00000330252.5:c.-630T>C
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215046
  ensembl protein: ENSP00000333711
  ensembl transcript: ENST00000333110
  gene symbol: TCP11X1
  hgvsc: ENST00000333110.5:c.776T>C
  hgvsp: ENSP00000333711.5:p.Val259Ala
  variant of: http://identifiers.org/hgnc/48369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361849
  ensembl transcript: ENST00000372763
  gene symbol: NXF2
  hgvsc: ENST00000372763.1:c.-1483T>C
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000378523
  ensembl transcript: ENST00000395088
  gene symbol: NXF2
  hgvsc: ENST00000395088.2:c.-738T>C
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215046
  ensembl protein: ENSP00000409700
  ensembl transcript: ENST00000448512
  gene symbol: TCP11X1
  hgvsc: ENST00000448512.1:c.*1081T>C
  variant of: http://identifiers.org/hgnc/48369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361844
  ensembl transcript: ENST00000372758
  gene symbol: NXF2
  hgvsc: ENST00000372758.1:c.-680T>C
  variant of: http://identifiers.org/hgnc/8072
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
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genotype quality: GenotypeQuality
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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: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Val259Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum

X-101481377-TTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101481377
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101481375
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000378523
  ensembl transcript: ENST00000395088
  gene symbol: NXF2
  hgvsc: ENST00000395088.2:c.-522-29_-522-28delTC
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000215046
  ensembl protein: ENSP00000333711
  ensembl transcript: ENST00000333110
  gene symbol: TCP11X1
  hgvsc: ENST00000333110.5:c.1013_1014delTC
  hgvsp: ENSP00000333711.5:p.Leu338GlnfsTer23
  variant of: http://identifiers.org/hgnc/48369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361844
  ensembl transcript: ENST00000372758
  gene symbol: NXF2
  hgvsc: ENST00000372758.1:c.-443_-442delTC
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000331471
  ensembl transcript: ENST00000330252
  gene symbol: NXF2
  hgvsc: ENST00000330252.5:c.-414-29_-414-28delTC
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361849
  ensembl transcript: ENST00000372763
  gene symbol: NXF2
  hgvsc: ENST00000372763.1:c.-1246_-1245delTC
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215046
  ensembl protein: ENSP00000409700
  ensembl transcript: ENST00000448512
  gene symbol: TCP11X1
  hgvsc: ENST00000448512.1:c.*1318_*1319delTC
  variant of: http://identifiers.org/hgnc/48369
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu338GlnfsTer23
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: TTC
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD

X-101481400-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101481400
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101481400
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361844
  ensembl transcript: ENST00000372758
  gene symbol: NXF2
  hgvsc: ENST00000372758.1:c.-423G>T
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361849
  ensembl transcript: ENST00000372763
  gene symbol: NXF2
  hgvsc: ENST00000372763.1:c.-1226G>T
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215046
  ensembl protein: ENSP00000409700
  ensembl transcript: ENST00000448512
  gene symbol: TCP11X1
  hgvsc: ENST00000448512.1:c.*1338G>T
  variant of: http://identifiers.org/hgnc/48369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000331471
  ensembl transcript: ENST00000330252
  gene symbol: NXF2
  hgvsc: ENST00000330252.5:c.-414-9G>T
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215046
  ensembl protein: ENSP00000333711
  ensembl transcript: ENST00000333110
  gene symbol: TCP11X1
  hgvsc: ENST00000333110.5:c.1033G>T
  hgvsp: ENSP00000333711.5:p.Gly345Cys
  variant of: http://identifiers.org/hgnc/48369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000378523
  ensembl transcript: ENST00000395088
  gene symbol: NXF2
  hgvsc: ENST00000395088.2:c.-522-9G>T
  variant of: http://identifiers.org/hgnc/8072
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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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: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  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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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly345Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

X-101571983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101571983
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101571983
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 2186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000331471
  ensembl transcript: ENST00000330252
  gene symbol: NXF2
  hgvsc: ENST00000330252.5:c.107G>A
  hgvsp: ENSP00000331471.5:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361849
  ensembl transcript: ENST00000372763
  gene symbol: NXF2
  hgvsc: ENST00000372763.1:c.-384G>A
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361843
  ensembl transcript: ENST00000372757
  gene symbol: NXF2
  hgvsc: ENST00000372757.1:c.107G>A
  hgvsp: ENSP00000361843.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000378523
  ensembl transcript: ENST00000395088
  gene symbol: NXF2
  hgvsc: ENST00000395088.2:c.107G>A
  hgvsp: ENSP00000378523.2:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361844
  ensembl transcript: ENST00000372758
  gene symbol: NXF2
  hgvsc: ENST00000372758.1:c.107G>A
  hgvsp: ENSP00000361844.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/8072
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  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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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19498
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg36Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

X-101571992-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101571992
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101571992
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 2442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361849
  ensembl transcript: ENST00000372763
  gene symbol: NXF2
  hgvsc: ENST00000372763.1:c.-375T>C
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000331471
  ensembl transcript: ENST00000330252
  gene symbol: NXF2
  hgvsc: ENST00000330252.5:c.116T>C
  hgvsp: ENSP00000331471.5:p.Phe39Ser
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361844
  ensembl transcript: ENST00000372758
  gene symbol: NXF2
  hgvsc: ENST00000372758.1:c.116T>C
  hgvsp: ENSP00000361844.1:p.Phe39Ser
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361843
  ensembl transcript: ENST00000372757
  gene symbol: NXF2
  hgvsc: ENST00000372757.1:c.116T>C
  hgvsp: ENSP00000361843.1:p.Phe39Ser
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000378523
  ensembl transcript: ENST00000395088
  gene symbol: NXF2
  hgvsc: ENST00000395088.2:c.116T>C
  hgvsp: ENSP00000378523.2:p.Phe39Ser
  variant of: http://identifiers.org/hgnc/8072
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  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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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: 615
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe39Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

X-101572024-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101572024
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101572024
    reference: chr 0
allele count: 5
allele frequency: 1.29065565307176e-3
allele num: 3874
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361844
  ensembl transcript: ENST00000372758
  gene symbol: NXF2
  hgvsc: ENST00000372758.1:c.148G>C
  hgvsp: ENSP00000361844.1:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000378523
  ensembl transcript: ENST00000395088
  gene symbol: NXF2
  hgvsc: ENST00000395088.2:c.148G>C
  hgvsp: ENSP00000378523.2:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000331471
  ensembl transcript: ENST00000330252
  gene symbol: NXF2
  hgvsc: ENST00000330252.5:c.148G>C
  hgvsp: ENSP00000331471.5:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361843
  ensembl transcript: ENST00000372757
  gene symbol: NXF2
  hgvsc: ENST00000372757.1:c.148G>C
  hgvsp: ENSP00000361843.1:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361849
  ensembl transcript: ENST00000372763
  gene symbol: NXF2
  hgvsc: ENST00000372763.1:c.-343G>C
  variant of: http://identifiers.org/hgnc/8072
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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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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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1089
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  variant carriers: 0
hgvs: p.Gly50Arg
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

X-101572034-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101572034
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101572034
    reference: chr 0
allele count: 2
allele frequency: 4.206983592763988e-4
allele num: 4754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000331471
  ensembl transcript: ENST00000330252
  gene symbol: NXF2
  hgvsc: ENST00000330252.5:c.158G>A
  hgvsp: ENSP00000331471.5:p.Arg53His
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361844
  ensembl transcript: ENST00000372758
  gene symbol: NXF2
  hgvsc: ENST00000372758.1:c.158G>A
  hgvsp: ENSP00000361844.1:p.Arg53His
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361849
  ensembl transcript: ENST00000372763
  gene symbol: NXF2
  hgvsc: ENST00000372763.1:c.-333G>A
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361843
  ensembl transcript: ENST00000372757
  gene symbol: NXF2
  hgvsc: ENST00000372757.1:c.158G>A
  hgvsp: ENSP00000361843.1:p.Arg53His
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000378523
  ensembl transcript: ENST00000395088
  gene symbol: NXF2
  hgvsc: ENST00000395088.2:c.158G>A
  hgvsp: ENSP00000378523.2:p.Arg53His
  variant of: http://identifiers.org/hgnc/8072
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 1373
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg53His
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

X-101572038-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101572038
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101572038
    reference: chr 0
allele count: 16
allele frequency: 3.015454202789295e-3
allele num: 5306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361849
  ensembl transcript: ENST00000372763
  gene symbol: NXF2
  hgvsc: ENST00000372763.1:c.-329G>A
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361844
  ensembl transcript: ENST00000372758
  gene symbol: NXF2
  hgvsc: ENST00000372758.1:c.162G>A
  hgvsp: ENST00000372758.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361843
  ensembl transcript: ENST00000372757
  gene symbol: NXF2
  hgvsc: ENST00000372757.1:c.162G>A
  hgvsp: ENST00000372757.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000331471
  ensembl transcript: ENST00000330252
  gene symbol: NXF2
  hgvsc: ENST00000330252.5:c.162G>A
  hgvsp: ENST00000330252.5:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000378523
  ensembl transcript: ENST00000395088
  gene symbol: NXF2
  hgvsc: ENST00000395088.2:c.162G>A
  hgvsp: ENST00000395088.2:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8072
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20408
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12414
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19536
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 2
hgvs: p.Pro54Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-101572058-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101572058
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101572058
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 7282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361844
  ensembl transcript: ENST00000372758
  gene symbol: NXF2
  hgvsc: ENST00000372758.1:c.182A>G
  hgvsp: ENSP00000361844.1:p.Asn61Ser
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000378523
  ensembl transcript: ENST00000395088
  gene symbol: NXF2
  hgvsc: ENST00000395088.2:c.182A>G
  hgvsp: ENSP00000378523.2:p.Asn61Ser
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361849
  ensembl transcript: ENST00000372763
  gene symbol: NXF2
  hgvsc: ENST00000372763.1:c.-309A>G
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000361843
  ensembl transcript: ENST00000372757
  gene symbol: NXF2
  hgvsc: ENST00000372757.1:c.182A>G
  hgvsp: ENSP00000361843.1:p.Asn61Ser
  variant of: http://identifiers.org/hgnc/8072
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185554
  ensembl protein: ENSP00000331471
  ensembl transcript: ENST00000330252
  gene symbol: NXF2
  hgvsc: ENST00000330252.5:c.182A>G
  hgvsp: ENSP00000331471.5:p.Asn61Ser
  variant of: http://identifiers.org/hgnc/8072
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn61Ser
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
reference allele: A

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.079330814894765e-4
allele num: 9265
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8431
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6545
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.144450162978212e-5
allele num: 46632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -2.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 5.023e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 2.171018e6

QD
type: SiteQuality
SIO_000300: 9.74e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8495
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.228048630725777e-4
allele num: 8143
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.352e1

VQSLOD
type: SiteQuality
SIO_000300: -1.747e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.26e-2

DP
type: SiteQuality
SIO_000300: 2.206001e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.509433962264151e-4
allele num: 6625
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 2.209005e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.001e0

FS
type: SiteQuality
SIO_000300: 2.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e0

QD
type: SiteQuality
SIO_000300: 1.315e1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.202651873332072e-5
allele num: 47589
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.619e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.849e0

VQSLOD
type: SiteQuality
SIO_000300: -2.3e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.779999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.21937e6

FS
type: SiteQuality
SIO_000300: 5.131e1

MQ
type: SiteQuality
SIO_000300: 5.887e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e0

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47905
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.249314e6

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.016e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e0

FS
type: SiteQuality
SIO_000300: 5.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.21e-2

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47905
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.249314e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.21e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.016e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

FS
type: SiteQuality
SIO_000300: 5.025e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e0

QD
type: SiteQuality
SIO_000300: 1.33e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.005126143330988e-4
allele num: 9949
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.71e-2

DP
type: SiteQuality
SIO_000300: 2.250115e6

QD
type: SiteQuality
SIO_000300: 1.437e1

MQ
type: SiteQuality
SIO_000300: 5.988e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.086985558059938e-5
allele num: 47916
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9949
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.71e-2

MQ
type: SiteQuality
SIO_000300: 5.988e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

QD
type: SiteQuality
SIO_000300: 1.437e1

DP
type: SiteQuality
SIO_000300: 2.250115e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.07284626113078e-4
allele num: 9321
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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African
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European (Non-Finnish)
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Other
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East Asian
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Latino
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European (Finnish)
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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QD
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European (Finnish)
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African
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Other
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East Asian
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European (Non-Finnish)
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Latino
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VQSLOD
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QD
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MQ
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FS
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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South Asian
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Latino
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East Asian
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European (Finnish)
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African
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Other
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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East Asian
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Other
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VQSLOD
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FS
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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African
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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Other
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European (Non-Finnish)
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allele frequency: 2.083637197091242e-5
allele num: 47993
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East Asian
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

VQSLOD
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FS
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MQ
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ClippingRankSum
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QD
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DP
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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African
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Other
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QD
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DP
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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Latino
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European (Finnish)
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South Asian
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African
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East Asian
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Other
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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QD
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FS
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DP
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East Asian
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Other
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European (Non-Finnish)
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Latino
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South Asian
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African
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MQ
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
type: SiteQuality
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MQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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African
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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Other
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DP
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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FS
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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African
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
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Other
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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DP
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QD
type: SiteQuality
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Latino
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European (Finnish)
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African
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South Asian
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East Asian
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Other
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FS
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ClippingRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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East Asian
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South Asian
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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African
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East Asian
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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FS
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DP
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.08420175072947e-5
allele num: 47980
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4530
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African
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allele frequency: 1.175364362952515e-4
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South Asian
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.82e1

BaseQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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South Asian
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allele num: 10125
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9323
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African
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East Asian
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allele frequency: 4.519433564326605e-4
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Other
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

DP
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SIO_000300: 2.267361e6

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 7.84e-2

ReadPosRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.679e1

South Asian
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allele num: 10124
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African
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allele num: 8516
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East Asian
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allele frequency: 1.506704836522525e-4
allele num: 6637
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 9323
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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SIO_000300: -1.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 47998
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African
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allele frequency: 0.0e0
allele num: 8516
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Latino
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Other
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allele num: 633
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East Asian
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allele frequency: 3.01340967304505e-4
allele num: 6637
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South Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 3.21e0

MQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.392e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.384e1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47997
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9322
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4530
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.83e0

DP
type: SiteQuality
SIO_000300: 2.267209e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.908e1

FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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East Asian
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allele frequency: 3.01295570955107e-4
allele num: 6638
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 9324
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
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South Asian
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allele frequency: 0.0e0
allele num: 10121
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European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
allele num: 47991
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FS
type: SiteQuality
SIO_000300: 6.315e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.948e1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9324
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.084332075786314e-5
allele num: 47977
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African
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South Asian
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Other
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.26611e6

MQ
type: SiteQuality
SIO_000300: 5.889e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e0

South Asian
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allele count: 0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 632
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.08494047494944e-5
allele num: 47963
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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VQSLOD
type: SiteQuality
SIO_000300: -9.464e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.263083e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

QD
type: SiteQuality
SIO_000300: 1.694e1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9321
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8489
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.085418752085419e-5
allele num: 47952
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Other
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East Asian
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allele count: 0
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South Asian
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allele frequency: 1.024275325207416e-4
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African
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allele count: 0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.089165587264446e-5
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Latino
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East Asian
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African
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allele num: 8453
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European (Finnish)
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allele count: 0
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DP
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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Other
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East Asian
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allele num: 6635
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 9319
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European (Non-Finnish)
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South Asian
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DP
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QD
type: SiteQuality
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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African
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Latino
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.092444184051391e-5
allele num: 47791
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South Asian
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MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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Latino
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African
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East Asian
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European (Non-Finnish)
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allele count: 2
allele frequency: 4.199739616143799e-5
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European (Finnish)
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allele frequency: 0.0e0
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Other
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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African
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Other
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European (Non-Finnish)
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allele frequency: 2.101811761738619e-5
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South Asian
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East Asian
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European (Finnish)
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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DP
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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East Asian
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African
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allele frequency: 1.724775163237649e-3
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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VQSLOD
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FS
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QD
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.194287e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.117343157805586e-5
allele num: 47229
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.249375312343828e-4
allele num: 8004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9293
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6593
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
type: SiteQuality
SIO_000300: -1.101e0

DP
type: SiteQuality
SIO_000300: 2.167693e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.607e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.089e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7411
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9273
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.039e0

QD
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
SIO_000300: 2.164997e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.483e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

East Asian
type: Population
allele count: 1
allele frequency: 1.538461538461539e-4
allele num: 6500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46629
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4515
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.625e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

DP
type: SiteQuality
SIO_000300: 2.156681e6

FS
type: SiteQuality
SIO_000300: 2.7811e1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.126e0

QD
type: SiteQuality
SIO_000300: 4.12e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6907
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4515
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -2.126e0

QD
type: SiteQuality
SIO_000300: 4.12e0

FS
type: SiteQuality
SIO_000300: 2.7811e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 2.156681e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.625e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46629
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4515
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6907
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.081548777849881e-4
allele num: 9246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.625e0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 2.156681e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

QD
type: SiteQuality
SIO_000300: 4.12e0

FS
type: SiteQuality
SIO_000300: 2.7811e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.126e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6309
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 549
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.197222710493936e-5
allele num: 45512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 2.190463e6

VQSLOD
type: SiteQuality
SIO_000300: -1.019e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 6.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

South Asian
type: Population
allele count: 2
allele frequency: 3.486750348675035e-4
allele num: 5736
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.956947162426614e-3
allele num: 511
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 6.213753106876554e-4
allele num: 43452
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 9.218713989398478e-4
allele num: 8678
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.378378378378379e-4
allele num: 5920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.597701149425287e-4
allele num: 4350
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.99e-2

DP
type: SiteQuality
SIO_000300: 2.244679e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.049e0

VQSLOD
type: SiteQuality
SIO_000300: -5.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 4.441e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 6.5e-1

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.150695019791954e-4
allele num: 43452
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.371930305940458e-4
allele num: 7289
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.689189189189189e-4
allele num: 5920
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.15233924867481e-4
allele num: 8678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.441e0

VQSLOD
type: SiteQuality
SIO_000300: -5.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

DP
type: SiteQuality
SIO_000300: 2.244679e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.049e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.99e-2

QD
type: SiteQuality
SIO_000300: 6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7289
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43452
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 6.5e-1

DP
type: SiteQuality
SIO_000300: 2.244679e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.049e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.99e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.24e-2

MQ
type: SiteQuality
SIO_000300: 5.927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

FS
type: SiteQuality
SIO_000300: 4.441e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5415
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.48544266191325e-4
allele num: 6732
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.25203455615375e-4
allele num: 7987
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.511830070300098e-4
allele num: 39687
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 479
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

QD
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

FS
type: SiteQuality
SIO_000300: 6.636e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.554e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 2.313736e6

VQSLOD
type: SiteQuality
SIO_000300: -1.085e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

East Asian
type: Population
allele count: 1046
allele frequency: 2.400734450309846e-1
allele num: 4357
num of homozygotes: 0

South Asian
type: Population
allele count: 578
allele frequency: 1.59228650137741e-1
allele num: 3630
num of homozygotes: 0

Other
type: Population
allele count: 58
allele frequency: 1.593406593406593e-1
allele num: 364
num of homozygotes: 0

African
type: Population
allele count: 1117
allele frequency: 1.966549295774648e-1
allele num: 5680
num of homozygotes: 0

Latino
type: Population
allele count: 1471
allele frequency: 2.241694605303261e-1
allele num: 6562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 520
allele frequency: 1.626524867062872e-1
allele num: 3197
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.648e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

QD
type: SiteQuality
SIO_000300: 2.48e0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

DP
type: SiteQuality
SIO_000300: 1.500041e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.127932436659368e-4
allele num: 3197
num of homozygotes: 0

African
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allele count: 2
allele frequency: 3.52112676056338e-4
allele num: 5680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 1.096754292764849e-3
allele num: 29177
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4357
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.500041e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.648e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

QD
type: SiteQuality
SIO_000300: 2.48e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

European (Finnish)
type: Population
allele count: 10
allele frequency: 3.127932436659368e-3
allele num: 3197
num of homozygotes: 0

African
type: Population
allele count: 64
allele frequency: 1.126760563380282e-2
allele num: 5680
num of homozygotes: 0

East Asian
type: Population
allele count: 64
allele frequency: 1.468900619692449e-2
allele num: 4357
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 6.887052341597796e-3
allele num: 3630
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 5.494505494505495e-3
allele num: 364
num of homozygotes: 0

Latino
type: Population
allele count: 71
allele frequency: 1.081987199024688e-2
allele num: 6562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.500041e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.648e-1

QD
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

Latino
type: Population
allele count: 81
allele frequency: 1.234379762267601e-2
allele num: 6562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 18
allele frequency: 5.630278385986863e-3
allele num: 3197
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 3.581267217630854e-3
allele num: 3630
num of homozygotes: 0

East Asian
type: Population
allele count: 45
allele frequency: 1.032820748221253e-2
allele num: 4357
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 403
allele frequency: 1.381224937450732e-2
allele num: 29177
num of homozygotes: 0

African
type: Population
allele count: 74
allele frequency: 1.302816901408451e-2
allele num: 5680
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

QD
type: SiteQuality
SIO_000300: 2.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.648e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

DP
type: SiteQuality
SIO_000300: 1.500041e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

European (Non-Finnish)
type: Population
allele count: 5413
allele frequency: 1.85522843335504e-1
allele num: 29177
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 517
allele frequency: 1.617141069752893e-1
allele num: 3197
num of homozygotes: 0

East Asian
type: Population
allele count: 733
allele frequency: 1.682350240991508e-1
allele num: 4357
num of homozygotes: 0

Latino
type: Population
allele count: 1186
allele frequency: 1.807375800060957e-1
allele num: 6562
num of homozygotes: 0

African
type: Population
allele count: 1417
allele frequency: 2.494718309859155e-1
allele num: 5680
num of homozygotes: 1

Other
type: Population
allele count: 74
allele frequency: 2.032967032967033e-1
allele num: 364
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.648e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.500041e6

QD
type: SiteQuality
SIO_000300: 2.48e0

Latino
type: Population
allele count: 34
allele frequency: 5.181347150259068e-3
allele num: 6562
num of homozygotes: 0

African
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allele count: 40
allele frequency: 7.042253521126761e-3
allele num: 5680
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 3.442735827404177e-3
allele num: 4357
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

DP
type: SiteQuality
SIO_000300: 1.500041e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.648e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

QD
type: SiteQuality
SIO_000300: 2.48e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 109
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 109
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 3.768844221105527e-3
allele num: 1592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.514e0

MQ
type: SiteQuality
SIO_000300: 6.051e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.356e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

DP
type: SiteQuality
SIO_000300: 7.64917e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.116e-1

QD
type: SiteQuality
SIO_000300: 4.25e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 109
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
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East Asian
type: Population
allele count: 3
allele frequency: 4.615384615384616e-2
allele num: 65
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.116e-1

QD
type: SiteQuality
SIO_000300: 4.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -1.514e0

MQ
type: SiteQuality
SIO_000300: 6.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.356e0

DP
type: SiteQuality
SIO_000300: 7.64917e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 167
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2158
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1297
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1539
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2205
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

DP
type: SiteQuality
SIO_000300: 1.997339e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

QD
type: SiteQuality
SIO_000300: 4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.266e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.79e-1

MQ
type: SiteQuality
SIO_000300: 6.047e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.480466327669602e-5
allele num: 40315
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4217
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5020
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 485
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.857e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 1.760118e6

MQ
type: SiteQuality
SIO_000300: 5.871e1

VQSLOD
type: SiteQuality
SIO_000300: -2.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4416
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.784121320249777e-4
allele num: 5605
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.671041875890417e-5
allele num: 42817
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.449e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.846e1

DP
type: SiteQuality
SIO_000300: 1.593276e6

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.498e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 507
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5299
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.931817621384361e-5
allele num: 40553
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.805e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

DP
type: SiteQuality
SIO_000300: 1.547582e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

QD
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4465
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5027
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.986679409832149e-5
allele num: 33482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4033
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 433
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.737e0

QD
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.64e-2

DP
type: SiteQuality
SIO_000300: 1.502746e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.927e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.78e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5103
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7329
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4332
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.404e1

VQSLOD
type: SiteQuality
SIO_000300: -9.408e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.187e0

QD
type: SiteQuality
SIO_000300: 2.016e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.552e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.39e-1

DP
type: SiteQuality
SIO_000300: 1.295219e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4325
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 491
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5667
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5103
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.735e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.29054e6

VQSLOD
type: SiteQuality
SIO_000300: -2.304e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 2.618e1

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

Latino
type: Population
allele count: 2
allele frequency: 2.369668246445498e-4
allele num: 8440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
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African
type: Population
allele count: 4
allele frequency: 5.54708084870337e-4
allele num: 7211
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5515
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4853
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 2.354048964218456e-4
allele num: 4248
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

DP
type: SiteQuality
SIO_000300: 1.242088e6

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

QD
type: SiteQuality
SIO_000300: 2.046e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 149
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 6.704980842911878e-3
allele num: 1044
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 95
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 44
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2171
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

DP
type: SiteQuality
SIO_000300: 6.1961e4

MQ
type: SiteQuality
SIO_000300: 2.557e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.711e0

FS
type: SiteQuality
SIO_000300: 6.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 2.2e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.016e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.0e-1
allele num: 10
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.93e-2

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

QD
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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FS
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MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele frequency: NaN
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East Asian
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allele num: 0
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African
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allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele frequency: NaN
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
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allele frequency: NaN
allele num: 0
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African
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allele frequency: NaN
allele num: 0
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Latino
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allele frequency: NaN
allele num: 0
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East Asian
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allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele frequency: NaN
allele num: 0
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South Asian
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DP
type: SiteQuality
SIO_000300: 5.0e0

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.768e1

QD
type: SiteQuality
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VQSLOD
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SIO_000300: -1.78e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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QD
type: SiteQuality
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -9.12e-2

DP
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.736e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 2.2e1

MQRankSum
type: SiteQuality
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VQSLOD
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FS
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DP
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QD
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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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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 7.15307582260372e-3
allele num: 699
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East Asian
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Other
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
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QD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.938242280285036e-4
allele num: 3368
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FS
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MQ
type: SiteQuality
SIO_000300: 2.2e1

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

European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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East Asian
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African
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allele frequency: 1.05708245243129e-3
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European (Non-Finnish)
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allele frequency: 3.715498938428875e-3
allele num: 3768
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BaseQRankSum
type: SiteQuality
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MQ
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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