X-54987390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054987390
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054987390
    reference: chr 0
allele count: 1
allele frequency: 1.201143488601148e-5
allele num: 83254
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.224-40G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-40G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.224-106G>A
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 571
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

X-54987391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054987391
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054987391
    reference: chr 0
allele count: 3
allele frequency: 3.604772719080062e-5
allele num: 83223
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-41G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.224-41G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.224-107G>A
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

X-54987393-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054987393
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054987393
    reference: chr 0
allele count: 1
allele frequency: 1.201374372281891e-5
allele num: 83238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-43C>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.224-109C>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.224-43C>G
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

X-54987393-GTGGCCAAAAAAATGTCCTTGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054987393
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054987372
    reference: chr 0
allele count: 1
allele frequency: 1.201374372281891e-5
allele num: 83238
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: GTGGCCAAAAAAATGTCCTTGC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

X-54987398-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054987398
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054987399
    reference: chr 0
allele count: 1
allele frequency: 1.235422020162087e-5
allele num: 80944
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-49dupT
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.224-49dupT
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.224-115dupT
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 7.5e0
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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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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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num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
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site quality: InbreedingCoeff

X-54989656-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989656
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989656
    reference: chr 0
allele count: 4
allele frequency: 4.639025804581038e-5
allele num: 86225
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2306A>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.223+34A>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.223+34A>G
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

X-54989656-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989656
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989656
    reference: chr 0
allele count: 2
allele frequency: 2.319512902290519e-5
allele num: 86225
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.223+34A>C
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.223+34A>C
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2306A>C
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
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site quality: ReadPosRankSum

X-54989657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989657
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989657
    reference: chr 0
allele count: 8
allele frequency: 9.278266819758069e-5
allele num: 86223
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.223+33C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2307C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.223+33C>T
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

X-54989658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989658
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989658
    reference: chr 0
allele count: 1
allele frequency: 1.159433732565015e-5
allele num: 86249
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.223+32C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2308C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.223+32C>T
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 753
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
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site quality: ClippingRankSum

X-54989661-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989661
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989661
    reference: chr 0
allele count: 2
allele frequency: 2.31776567389037e-5
allele num: 86290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.223+29A>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.223+29A>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2311A>G
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
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site quality: QD
site quality: InbreedingCoeff
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site quality: VQSLOD

X-54989671-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989671
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989671
    reference: chr 0
allele count: 1
allele frequency: 1.155668554258639e-5
allele num: 86530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2321T>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.223+19T>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
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  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
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  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.223+19T>A
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
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site quality: VQSLOD
site quality: DP
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X-54989682-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989682
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989682
    reference: chr 0
allele count: 1
allele frequency: 1.150218541522889e-5
allele num: 86940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2332T>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.223+8T>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
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  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.223+8T>G
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: splice region
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: c.223+8T>G
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
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reference allele: A
site quality: VQSLOD
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X-54989689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989689
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989689
    reference: chr 0
allele count: 2
allele frequency: 2.293656891865546e-5
allele num: 87197
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.223+1G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.223+1G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
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  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2339G>A
  variant of: http://identifiers.org/hgnc/8872
canonical: true
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 6348
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
hgvs: c.223+1G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ

X-54989691-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989691
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989691
    reference: chr 0
allele count: 1
allele frequency: 1.145987325380181e-5
allele num: 87261
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2341A>C
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.222A>C
  hgvsp: ENSP00000364145.3:p.Lys74Asn
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.222A>C
  hgvsp: ENSP00000364131.2:p.Lys74Asn
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
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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 depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 109
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6369
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys74Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD

X-54989700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989700
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989700
    reference: chr 0
allele count: 3
allele frequency: 3.430257154944716e-5
allele num: 87457
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.213A>G
  hgvsp: ENST00000375006.3:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2350A>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.213A>G
  hgvsp: ENST00000374992.2:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 551
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr71Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-54989721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989721
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989721
    reference: chr 0
allele count: 4
allele frequency: 4.565636735113171e-5
allele num: 87611
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.192A>G
  hgvsp: ENST00000375006.3:c.192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.192A>G
  hgvsp: ENST00000374992.2:c.192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2371A>G
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype 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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 10
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  variant carriers: 0
hgvs: p.Arg64Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-54989730-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989730
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989730
    reference: chr 0
allele count: 1
allele frequency: 1.141174725262185e-5
allele num: 87629
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.183G>T
  hgvsp: ENSP00000364131.2:p.Lys61Asn
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.183G>T
  hgvsp: ENSP00000364145.3:p.Lys61Asn
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2380G>T
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys61Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

X-54989739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989739
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989739
    reference: chr 0
allele count: 1
allele frequency: 1.141265892127548e-5
allele num: 87622
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.174C>T
  hgvsp: ENST00000375006.3:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2389C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.174C>T
  hgvsp: ENST00000374992.2:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
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genotype depth: GenotypeDepth
  all individuals: 336
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genotype depth: GenotypeDepth
  all individuals: 269
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
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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
  all individuals: 300
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12869
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile58Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

X-54989760-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989760
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989760
    reference: chr 0
allele count: 1
allele frequency: 1.141604639481255e-5
allele num: 87596
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.153A>C
  hgvsp: ENST00000375006.3:c.153A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2410A>C
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.153A>C
  hgvsp: ENST00000374992.2:c.153A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
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genotype depth: GenotypeDepth
  all individuals: 336
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6415
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro51Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

X-54989767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989767
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989767
    reference: chr 0
allele count: 1
allele frequency: 1.141865351237782e-5
allele num: 87576
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.146G>A
  hgvsp: ENSP00000364145.3:p.Gly49Asp
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2417G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.146G>A
  hgvsp: ENSP00000364131.2:p.Gly49Asp
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 225
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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: 1171
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 336
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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: 3300
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly49Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-54989774-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989774
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989774
    reference: chr 0
allele count: 6
allele frequency: 6.853226727584238e-5
allele num: 87550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.139A>G
  hgvsp: ENSP00000364131.2:p.Met47Val
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2424A>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.139A>G
  hgvsp: ENSP00000364145.3:p.Met47Val
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1895
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6397
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met47Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS

X-54989783-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989783
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989783
    reference: chr 0
allele count: 1
allele frequency: 1.142635145171795e-5
allele num: 87517
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.130A>G
  hgvsp: ENSP00000364131.2:p.Met44Val
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.130A>G
  hgvsp: ENSP00000364145.3:p.Met44Val
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2433A>G
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 299
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6389
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met44Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

X-54989788-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989788
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989788
    reference: chr 0
allele count: 1
allele frequency: 1.143392904103637e-5
allele num: 87459
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.125C>G
  hgvsp: ENSP00000364145.3:p.Pro42Arg
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2438C>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.125C>G
  hgvsp: ENSP00000364131.2:p.Pro42Arg
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 32
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro42Arg
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

X-54989791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989791
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989791
    reference: chr 0
allele count: 9
allele frequency: 1.029524474084581e-4
allele num: 87419
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2441C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.122C>T
  hgvsp: ENSP00000364131.2:p.Ser41Phe
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.122C>T
  hgvsp: ENSP00000364145.3:p.Ser41Phe
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4088
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 225
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 29374
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  variant carriers: 1
hgvs: p.Ser41Phe
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

X-54989794-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989794
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989794
    reference: chr 0
allele count: 3
allele frequency: 3.434144554591452e-5
allele num: 87358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.119A>G
  hgvsp: ENSP00000364131.2:p.Asn40Ser
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2444A>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.119A>G
  hgvsp: ENSP00000364145.3:p.Asn40Ser
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 11140
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 1331
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn40Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

X-54989851-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989851
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989851
    reference: chr 0
allele count: 1
allele frequency: 1.183445957940331e-5
allele num: 84499
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.98-36T>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.98-36T>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2501T>A
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 2840
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
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X-54989852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24054989852
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24054989852
    reference: chr 0
allele count: 1
allele frequency: 1.184848161708077e-5
allele num: 84399
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.98-37C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.98-37C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.29-2502C>T
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
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site quality: BaseQRankSum

X-55020301-T-TACC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020301
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020304
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 25995
alternate allele: TACC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.97+40_97+42dupGGT
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.97+40_97+42dupGGT
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4535_28+4537dupGGT
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-55020307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020307
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020307
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 26827
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4532G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.97+37G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.97+37G>A
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 172
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

X-55020324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020324
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020324
    reference: chr 0
allele count: 2
allele frequency: 6.515931452401121e-5
allele num: 30694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4515G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.97+20G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.97+20G>A
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 8.25e1
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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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

X-55020325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020325
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020325
    reference: chr 0
allele count: 1
allele frequency: 3.168869030642964e-5
allele num: 31557
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.97+19C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.97+19C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4514C>T
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

X-55020355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020355
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020355
    reference: chr 0
allele count: 2
allele frequency: 4.370915925432174e-5
allele num: 45757
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.86G>A
  hgvsp: ENSP00000364145.3:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.86G>A
  hgvsp: ENSP00000364131.2:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4484G>A
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 225
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  variant carriers: 0
hgvs: p.Arg29Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

X-55020356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020356
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020356
    reference: chr 0
allele count: 2
allele frequency: 4.309230371455658e-5
allele num: 46412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.85C>T
  hgvsp: ENSP00000364131.2:p.Arg29Trp
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4483C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.85C>T
  hgvsp: ENSP00000364145.3:p.Arg29Trp
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 618
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1868
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  variant carriers: 2
hgvs: p.Arg29Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

X-55020358-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020358
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020358
    reference: chr 0
allele count: 1
allele frequency: 2.114477829699955e-5
allele num: 47293
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4481A>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.83A>T
  hgvsp: ENSP00000364145.3:p.Gln28Leu
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.83A>T
  hgvsp: ENSP00000364131.2:p.Gln28Leu
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1332
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln28Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

X-55020361-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020361
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020361
    reference: chr 0
allele count: 1
allele frequency: 2.058121346834609e-5
allele num: 48588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4478T>C
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.80T>C
  hgvsp: ENSP00000364131.2:p.Leu27Pro
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.80T>C
  hgvsp: ENSP00000364145.3:p.Leu27Pro
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 257
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu27Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

X-55020362-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020362
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020362
    reference: chr 0
allele count: 1
allele frequency: 2.055751994079434e-5
allele num: 48644
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.79C>G
  hgvsp: ENSP00000364145.3:p.Leu27Val
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.79C>G
  hgvsp: ENSP00000364131.2:p.Leu27Val
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4477C>G
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1297
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  variant carriers: 0
hgvs: p.Leu27Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

X-55020374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020374
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020374
    reference: chr 0
allele count: 3
allele frequency: 5.77311652073511e-5
allele num: 51965
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4465G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.67G>A
  hgvsp: ENSP00000364145.3:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.67G>A
  hgvsp: ENSP00000364131.2:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly23Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

X-55020375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020375
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020375
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 52396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.66C>T
  hgvsp: ENST00000374992.2:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.66C>T
  hgvsp: ENST00000375006.3:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4464C>T
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  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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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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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: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser22Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

X-55020393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020393
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020393
    reference: chr 0
allele count: 20
allele frequency: 3.711332553953497e-4
allele num: 53889
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4446C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.48C>T
  hgvsp: ENST00000375006.3:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.48C>T
  hgvsp: ENST00000374992.2:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 4
genotype depth: GenotypeDepth
  all individuals: 231
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Ile16Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

X-55020426-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020426
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020426
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 47340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4413G>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.15G>T
  hgvsp: ENSP00000364131.2:p.Met5Ile
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.15G>T
  hgvsp: ENSP00000364145.3:p.Met5Ile
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met5Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

X-55020428-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020428
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020428
    reference: chr 0
allele count: 1
allele frequency: 2.135064158677968e-5
allele num: 46837
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.13A>G
  hgvsp: ENSP00000364131.2:p.Met5Val
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4411A>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.13A>G
  hgvsp: ENSP00000364145.3:p.Met5Val
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 462
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met5Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

X-55020431-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020431
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020431
    reference: chr 0
allele count: 1
allele frequency: 2.207456789033355e-5
allele num: 45301
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4408G>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.10G>T
  hgvsp: ENSP00000364145.3:p.Glu4Ter
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.10G>T
  hgvsp: ENSP00000364131.2:p.Glu4Ter
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu4Ter
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

X-55020439-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020439
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020439
    reference: chr 0
allele count: 1
allele frequency: 2.339236005520597e-5
allele num: 42749
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.2T>C
  hgvsp: ENSP00000364131.2:p.Met1?
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4400T>C
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.2T>C
  hgvsp: ENSP00000364145.3:p.Met1?
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: start lost
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1862
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  variant carriers: 1
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

X-55020440-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020440
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020440
    reference: chr 0
allele count: 8
allele frequency: 1.937280542438552e-4
allele num: 41295
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4399A>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.1A>G
  hgvsp: ENSP00000364131.2:p.Met1?
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.1A>G
  hgvsp: ENSP00000364145.3:p.Met1?
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
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  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

X-55020441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020441
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020441
    reference: chr 0
allele count: 3
allele frequency: 7.283144376198684e-5
allele num: 41191
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.-1G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4398G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.-1G>A
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  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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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: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

X-55020451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020451
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020451
    reference: chr 0
allele count: 2
allele frequency: 5.603967609067219e-5
allele num: 35689
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4388C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.-11C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.-11C>T
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1009
  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
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 259
  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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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-55020453-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020453
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020453
    reference: chr 0
allele count: 1
allele frequency: 2.888253473124802e-5
allele num: 34623
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4386T>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.-13T>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.-13T>A
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

X-55020456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020456
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020456
    reference: chr 0
allele count: 1
allele frequency: 3.025810160670519e-5
allele num: 33049
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.-16C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4383C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.-16C>T
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 219
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

X-55020459-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020459
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020459
    reference: chr 0
allele count: 1
allele frequency: 3.150995714645828e-5
allele num: 31736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.-19A>C
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4380A>C
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.-19A>C
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 934
  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
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

X-55020464-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020464
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020464
    reference: chr 0
allele count: 6
allele frequency: 1.975503753457131e-4
allele num: 30372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.-24A>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4375A>G
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.-24A>G
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
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site quality: MQ

X-55020476-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020476
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020476
    reference: chr 0
allele count: 1
allele frequency: 3.987558816492543e-5
allele num: 25078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.-36T>C
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.-36T>C
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4363T>C
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: 5' 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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
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X-55020478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020478
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020478
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 24373
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4361C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.-38C>T
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.-38C>T
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: 5' UTR
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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

X-55020481-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020481
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020481
    reference: chr 0
allele count: 3
allele frequency: 1.318797256901706e-4
allele num: 22748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4358G>C
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.-41G>C
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.-41G>C
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
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site quality: ClippingRankSum
site quality: InbreedingCoeff
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site quality: QD
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X-55020507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055020507
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055020507
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 15645
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000444074
  ensembl transcript: ENST00000545676
  gene symbol: PFKFB1
  hgvsc: ENST00000545676.1:c.28+4332G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364131
  ensembl transcript: ENST00000374992
  gene symbol: PFKFB1
  hgvsc: ENST00000374992.2:c.-67G>A
  variant of: http://identifiers.org/hgnc/8872
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158571
  ensembl protein: ENSP00000364145
  ensembl transcript: ENST00000375006
  gene symbol: PFKFB1
  hgvsc: ENST00000375006.3:c.-67G>A
  variant of: http://identifiers.org/hgnc/8872
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
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site quality: ReadPosRankSum
site quality: MQ

X-55026807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026807
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026807
    reference: chr 0
allele count: 1
allele frequency: 9.014693951140358e-5
allele num: 11093
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.-49C>T
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: European (Non-Finnish)
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X-55026808-G-C
type: Variant
location: Region
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allele count: 1
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allele num: 11171
alternate allele: C
annotation: Annotation
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  ensembl protein: ENSP00000364126
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  gene symbol: APEX2
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  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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X-55026808-G-T
type: Variant
location: Region
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annotation: Annotation
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  gene symbol: APEX2
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  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
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genotype depth: GenotypeDepth
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X-55026809-C-T
type: Variant
location: Region
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  gene symbol: APEX2
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canonical: true
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X-55026814-G-C
type: Variant
location: Region
  begin: Position
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    reference: chr 0
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  gene symbol: APEX2
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genotype quality: GenotypeQuality
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population: East Asian
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population: Latino
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population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
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X-55026820-G-T
type: Variant
location: Region
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    reference: chr 0
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    type: ExactPosition
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    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 11802
alternate allele: T
annotation: Annotation
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  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.-36G>T
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
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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population: African
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population: Other
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population: European (Non-Finnish)
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site quality: MQRankSum
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site quality: FS
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X-55026822-T-A
type: Variant
location: Region
  begin: Position
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    reference: chr 0
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    type: ExactPosition
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allele count: 0
allele frequency: 0.0e0
allele num: 11955
alternate allele: A
annotation: Annotation
  canonical: true
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  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.-34T>A
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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X-55026827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026827
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026827
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 12399
alternate allele: T
annotation: Annotation
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  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000169188
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  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.2C>T
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: true
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  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.-29C>T
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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X-55026828-G-A
type: Variant
location: Region
  begin: Position
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    reference: chr 0
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    reference: chr 0
allele count: 1
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allele num: 12590
alternate allele: A
annotation: Annotation
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  ensembl protein: ENSP00000364126
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  gene symbol: APEX2
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  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
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  gene symbol: APEX2
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  variant of: http://identifiers.org/hgnc/17889
canonical: true
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 158
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

X-55026828-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026828
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026828
    reference: chr 0
allele count: 1
allele frequency: 7.942811755361398e-5
allele num: 12590
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.-28G>C
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.3G>C
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
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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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 158
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
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site quality: VQSLOD
site quality: InbreedingCoeff
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site quality: MQ

X-55026831-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026831
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026831
    reference: chr 0
allele count: 1
allele frequency: 7.692899453804139e-5
allele num: 12999
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.-25C>G
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.6C>G
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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population: European (Finnish)
  type: Population
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  allele frequency: 0.0e0
  allele num: 179
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
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site quality: QD

X-55026844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026844
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026844
    reference: chr 0
allele count: 2
allele frequency: 1.227822456872736e-4
allele num: 16289
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.-12C>T
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.19C>T
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
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site quality: FS
site quality: QD
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site quality: DP
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X-55026846-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026846
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026846
    reference: chr 0
allele count: 3
allele frequency: 1.774412965044064e-4
allele num: 16907
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.-10G>T
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.21G>T
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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  variant carriers: 0
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population: African
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  allele num: 3022
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population: European (Finnish)
population: East Asian
population: Latino
population: Other
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population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
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site quality: DP
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site quality: ReadPosRankSum
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X-55026847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026847
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026847
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 17168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.22C>T
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.-9C>T
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
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  allele num: 1281
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
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site quality: InbreedingCoeff
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site quality: VQSLOD

X-55026849-C-G
type: Variant
location: Region
  begin: Position
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    reference: chr 0
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    type: ExactPosition
    position: 24055026849
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 17974
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.-7C>G
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.24C>G
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: South Asian
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population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
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site quality: MQ
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X-55026850-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026850
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026850
    reference: chr 0
allele count: 305
allele frequency: 1.649094349824277e-2
allele num: 18495
alternate allele: G
annotation: Annotation
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  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.25T>G
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.-6T>G
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: 5' UTR
filter: PASS
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population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
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site quality: DP
site quality: MQRankSum
site quality: FS
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site quality: QD
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site quality: VQSLOD
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X-55026853-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026853
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026853
    reference: chr 0
allele count: 1
allele frequency: 5.199126546740148e-5
allele num: 19234
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.-3A>C
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.28A>C
  variant of: http://identifiers.org/hgnc/17889
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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population: Other
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population: South Asian
population: European (Finnish)
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X-55026859-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026859
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026859
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 20986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000169188
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  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.34T>A
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: true
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  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.4T>A
  hgvsp: ENSP00000364126.3:p.Leu2Met
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: missense
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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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.Leu2Met
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1310
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

X-55026880-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026880
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026880
    reference: chr 0
allele count: 1
allele frequency: 3.230495881117752e-5
allele num: 30955
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.25A>G
  hgvsp: ENSP00000364126.3:p.Ile9Val
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.55A>G
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ile9Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 231
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

X-55026884-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026884
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026884
    reference: chr 0
allele count: 2
allele frequency: 6.203281535932508e-5
allele num: 32241
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.59A>G
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.29A>G
  hgvsp: ENSP00000364126.3:p.Asn10Ser
  variant of: http://identifiers.org/hgnc/17889
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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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 17050
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
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X-55026900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026900
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026900
    reference: chr 0
allele count: 19
allele frequency: 4.748456751555745e-4
allele num: 40013
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.45C>T
  hgvsp: ENST00000374987.3:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.75C>T
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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hgvs: p.Pro15Pro
num of homozygotes: 0
population: Latino
  type: Population
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  allele frequency: 2.651816494298595e-4
  allele num: 3771
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

X-55026905-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026905
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026905
    reference: chr 0
allele count: 1
allele frequency: 2.325743656534177e-5
allele num: 42997
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.80A>G
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.50A>G
  hgvsp: ENSP00000364126.3:p.Gln17Arg
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln17Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1318
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

X-55026911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24055026911
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24055026911
    reference: chr 0
allele count: 3
allele frequency: 6.431006023708976e-5
allele num: 46649
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169188
  ensembl protein: ENSP00000364126
  ensembl transcript: ENST00000374987
  gene symbol: APEX2
  hgvsc: ENST00000374987.3:c.56T>C
  hgvsp: ENSP00000364126.3:p.Val19Ala
  variant of: http://identifiers.org/hgnc/17889
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169188
  ensembl transcript: ENST00000471758
  gene symbol: APEX2
  hgvsc: ENST00000471758.1:n.86T>C
  variant of: http://identifiers.org/hgnc/17889
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val19Ala
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1980
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.603849238171612e-4
allele num: 6235
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9377
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.626e0

QD
type: SiteQuality
SIO_000300: 1.184e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

MQ
type: SiteQuality
SIO_000300: 5.848e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.538297e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.194e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.264e0

GenotypeQuality
all individuals: 3927
bin: 6.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.209757663296421e-4
allele num: 6231
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45431
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.218175173589962e-4
allele num: 8209
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

DP
type: SiteQuality
SIO_000300: 1.535588e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.107e0

FS
type: SiteQuality
SIO_000300: 7.341e0

QD
type: SiteQuality
SIO_000300: 1.784e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

GenotypeQuality
all individuals: 2401
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9389
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.200558941971261e-5
allele num: 45443
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8995
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

MQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

DP
type: SiteQuality
SIO_000300: 1.530616e6

FS
type: SiteQuality
SIO_000300: 6.091e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

QD
type: SiteQuality
SIO_000300: 1.436e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9389
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.200558941971261e-5
allele num: 45443
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4356
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8995
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

FS
type: SiteQuality
SIO_000300: 6.091e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.436e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

DP
type: SiteQuality
SIO_000300: 1.530616e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

GenotypeQuality
all individuals: 2310
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.264287655103704e-5
allele num: 44164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.51e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.528317e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

QD
type: SiteQuality
SIO_000300: 1.356e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.196303057006777e-5
allele num: 47661
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.108770373655616e-4
allele num: 9019
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.078515962036238e-4
allele num: 9272
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.778e0

MQRankSum
type: SiteQuality
SIO_000300: -1.077e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.716e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.25e-2

DP
type: SiteQuality
SIO_000300: 2.168994e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

GenotypeQuality
all individuals: 12887
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9019
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.196303057006777e-5
allele num: 47661
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.716e1

DP
type: SiteQuality
SIO_000300: 2.168994e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.25e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.778e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

MQRankSum
type: SiteQuality
SIO_000300: -1.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.678697330871244e-4
allele num: 47656
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9020
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.054e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.838e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 1.277e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 2.169528e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.94e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.733e1

GenotypeQuality
all individuals: 2172
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.07828337287039e-4
allele num: 9274
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47669
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9033
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 3.183e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.966e0

DP
type: SiteQuality
SIO_000300: 2.168749e6

VQSLOD
type: SiteQuality
SIO_000300: -3.131e0

FS
type: SiteQuality
SIO_000300: 2.687e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

GenotypeQuality
all individuals: 1341
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.176609012825038e-4
allele num: 8499
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9063
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.097271449843753e-5
allele num: 47681
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e0

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.797e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.49e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e0

DP
type: SiteQuality
SIO_000300: 2.170386e6

FS
type: SiteQuality
SIO_000300: 2.032e0

VQSLOD
type: SiteQuality
SIO_000300: -3.217e-1

GenotypeQuality
all individuals: 2540
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9277
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.175917215428034e-4
allele num: 8504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47727
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.678e1

QD
type: SiteQuality
SIO_000300: 1.174e1

FS
type: SiteQuality
SIO_000300: 9.330000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.894e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.235e-1

DP
type: SiteQuality
SIO_000300: 2.178836e6

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 621
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9569
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.07781849536538e-4
allele num: 9278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47799
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.094e-1

DP
type: SiteQuality
SIO_000300: 2.19208e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.08e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.119e1

MQ
type: SiteQuality
SIO_000300: 5.764e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47853
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.464e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.216e0

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.74e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

DP
type: SiteQuality
SIO_000300: 2.199432e6

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47862
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.018122581958868e-4
allele num: 9822
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 2.896e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.200725e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9970
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8513
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 6.262655783562615e-5
allele num: 47903
num of homozygotes: 0

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

East Asian
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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: 630
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.205924e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.389e0

FS
type: SiteQuality
SIO_000300: 5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10096
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

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

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

East Asian
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allele count: 4
allele frequency: 6.026819346090101e-4
allele num: 6637
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47937
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.769e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.43e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

QD
type: SiteQuality
SIO_000300: 1.607e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 2.209997e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.891196834817012e-5
allele num: 10110
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47945
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.905e0

DP
type: SiteQuality
SIO_000300: 2.209844e6

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

FS
type: SiteQuality
SIO_000300: 1.958e0

QD
type: SiteQuality
SIO_000300: 1.113e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.394e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47940
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9264
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4521
num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 6637
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.174398120963006e-4
allele num: 8515
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 633
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South Asian
type: Population
allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.436e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.086e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

DP
type: SiteQuality
SIO_000300: 2.209784e6

MQ
type: SiteQuality
SIO_000300: 5.929e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9253
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10113
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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allele num: 47930
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African
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East Asian
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allele frequency: 1.506931886678722e-4
allele num: 6636
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BaseQRankSum
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VQSLOD
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.086680716983494e-5
allele num: 47923
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4517
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.263e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.418e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4515
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47918
num of homozygotes: 0

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

East Asian
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allele frequency: 9.04295403165034e-4
allele num: 6635
num of homozygotes: 0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.234e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

DP
type: SiteQuality
SIO_000300: 2.207076e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-2

MQ
type: SiteQuality
SIO_000300: 5.991e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

East Asian
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allele num: 6635
num of homozygotes: 0

African
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allele frequency: 1.174398120963006e-4
allele num: 8515
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9230
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47916
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

South Asian
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allele count: 0
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allele num: 10075
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.205043e6

QD
type: SiteQuality
SIO_000300: 2.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.53e-2

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.38e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9228
num of homozygotes: 0

East Asian
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allele frequency: 1.507840772014475e-4
allele num: 6632
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47897
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.203408e6

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.186e0

QD
type: SiteQuality
SIO_000300: 2.118e1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 8513
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 2.995805871779509e-4
allele num: 10014
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 1.252975817566721e-4
allele num: 47886
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9231
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.201287e6

FS
type: SiteQuality
SIO_000300: 3.492e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.94e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 3.525264394829612e-4
allele num: 8510
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47869
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.346e-1

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

Other
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allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

African
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allele frequency: 1.187084520417854e-4
allele num: 8424
num of homozygotes: 0

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

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

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

ClippingRankSum
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QD
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DP
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VQSLOD
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MQRankSum
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MQ
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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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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 2.14045677347546e-5
allele num: 46719
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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QD
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DP
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 693
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 3719
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 2207
num of homozygotes: 0

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

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 2336
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2867
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 208
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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QD
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele frequency: 3.431708991077557e-4
allele num: 2914
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 227
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.978850163836759e-4
allele num: 3357
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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QD
type: SiteQuality
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VQSLOD
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DP
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SIO_000300: 6.77224e5

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 887
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 5.856515373352855e-5
allele num: 17075
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.087471898630697e-5
allele num: 24465
num of homozygotes: 0

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

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

South Asian
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allele frequency: 1.924557351809084e-4
allele num: 5196
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Other
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allele frequency: 0.0e0
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 8.063215610385422e-5
allele num: 24804
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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QD
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MQ
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 8.87319e5

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.865323633650438e-4
allele num: 5361
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East Asian
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
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allele frequency: 6.87757909215956e-4
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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MQ
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DP
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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African
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Latino
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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Other
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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DP
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FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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European (Non-Finnish)
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Other
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African
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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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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeQuality
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Latino
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European (Non-Finnish)
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Other
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South Asian
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African
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allele frequency: 3.367003367003367e-3
allele num: 5940
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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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num of homozygotes: 0

QD
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

African
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South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.392901071867862e-5
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1200
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Latino
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 0

Latino
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East Asian
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African
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South Asian
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allele frequency: 1.45322434150772e-3
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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DP
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

East Asian
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South Asian
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.370864558581612e-4
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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allele frequency: 4.4004400440044e-4
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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DP
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
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Other
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East Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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DP
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QD
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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Other
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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African
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DP
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QD
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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European (Non-Finnish)
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Latino
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East Asian
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African
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European (Finnish)
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South Asian
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Other
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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Other
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East Asian
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Latino
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European (Non-Finnish)
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 3429
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 191
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 3665
num of homozygotes: 0

East Asian
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allele frequency: 1.921844971172326e-3
allele num: 1561
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1376
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 12032
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.31406e5

FS
type: SiteQuality
SIO_000300: 4.032e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.34e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.673999999999999e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 137
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2809
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 2643
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.49162e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.73e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.137e1

FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -6.09e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.401e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.29e-1

African
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allele frequency: 0.0e0
allele num: 2355
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 467
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1107
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.666e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.87e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.22235e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.591e1

East Asian
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allele frequency: 0.0e0
allele num: 679
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 115
num of homozygotes: 0

African
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allele count: 1
allele frequency: 4.246284501061571e-4
allele num: 2355
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.666e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 1.591e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.22235e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.87e-2

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 113
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 675
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6385
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 3.23878e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.89e-2

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6481
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.37174e5

QD
type: SiteQuality
SIO_000300: 2.39e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.64e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 105
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 735
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 135
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6676
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e0

DP
type: SiteQuality
SIO_000300: 3.55081e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.548e0

QD
type: SiteQuality
SIO_000300: 1.628e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.31e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 759
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 105
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2435
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.48e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.58828e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.393e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.25e-2

QD
type: SiteQuality
SIO_000300: 2.152e1

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1326
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 543
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 159
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2461
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7007
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.13e-2

QD
type: SiteQuality
SIO_000300: 1.432e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.126e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

Other
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allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 821
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1369
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.411233418007338e-4
allele num: 7086
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.79779e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
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allele frequency: 1.792114695340502e-3
allele num: 558
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 821
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1369
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 112
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7086
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 870
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7272
num of homozygotes: 0

Latino
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allele num: 599
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African
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allele frequency: 3.929273084479371e-4
allele num: 2545
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Other
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South Asian
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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FS
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ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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East Asian
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allele frequency: 1.699235344095157e-3
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South Asian
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allele frequency: 0.0e0
allele num: 1943
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Other
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allele frequency: 0.0e0
allele num: 141
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European (Finnish)
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allele frequency: 0.0e0
allele num: 307
num of homozygotes: 0

VQSLOD
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ReadPosRankSum
type: SiteQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

East Asian
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allele frequency: 8.0e-4
allele num: 1250
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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 count: 0
allele frequency: 0.0e0
allele num: 9163
num of homozygotes: 0

South Asian
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allele frequency: 9.718172983479105e-4
allele num: 2058
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.749e0

FS
type: SiteQuality
SIO_000300: 2.838e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
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allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.71e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
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European (Non-Finnish)
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allele count: 0
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Latino
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East Asian
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 369
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.78925e5

QD
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.06e-2

FS
type: SiteQuality
SIO_000300: 3.222e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2291
num of homozygotes: 0

African
type: Population
allele count: 296
allele frequency: 8.83054892601432e-2
allele num: 3352
num of homozygotes: 5

Latino
type: Population
allele count: 6
allele frequency: 5.591798695246971e-3
allele num: 1073
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1391
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 385
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.85931e5

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

QD
type: SiteQuality
SIO_000300: 1.585e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

VQSLOD
type: SiteQuality
SIO_000300: 6.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

African
type: Population
allele count: 1
allele frequency: 2.924831822170225e-4
allele num: 3419
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1149
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 4.99992e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 1.484e1

FS
type: SiteQuality
SIO_000300: 1.074e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.89e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1619
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2647
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.73e1

DP
type: SiteQuality
SIO_000300: 5.26709e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.95e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 819
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4333
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.946329913180742e-4
allele num: 2534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16393
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4075
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.40198e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.031e0

VQSLOD
type: SiteQuality
SIO_000300: -4.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

QD
type: SiteQuality
SIO_000300: 8.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.93e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 875
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 7.320644216691069e-4
allele num: 2732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2661
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 239
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.582e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.79e-2

DP
type: SiteQuality
SIO_000300: 6.55777e5

QD
type: SiteQuality
SIO_000300: 1.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.684e0

South Asian
type: Population
allele count: 3
allele frequency: 5.679666792881485e-4
allele num: 5282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3359
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.984520738241715e-4
allele num: 5039
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 6.645779929744612e-4
allele num: 21066
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 6.39e-1

DP
type: SiteQuality
SIO_000300: 7.46023e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 2.082e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5602
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.89753320683112e-4
allele num: 5270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4239
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

FS
type: SiteQuality
SIO_000300: 6.896e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.467e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

DP
type: SiteQuality
SIO_000300: 7.79308e5