3-165548629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548629
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548629
    reference: chr 3
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.193C>T
  hgvsp: ENSP00000419804.1:p.Pro65Ser
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6473C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6473C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.193C>T
  hgvsp: ENSP00000419505.1:p.Pro65Ser
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.193C>T
  hgvsp: ENSP00000264381.3:p.Pro65Ser
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6473C>T
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro65Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

3-165548639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548639
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548639
    reference: chr 3
allele count: 2
allele frequency: 1.650028875505322e-5
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6463T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6463T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.183T>C
  hgvsp: ENST00000264381.3:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.183T>C
  hgvsp: ENST00000497011.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.183T>C
  hgvsp: ENST00000482958.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6463T>C
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr61Tyr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

3-165548640-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548640
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548640
    reference: chr 3
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.182A>G
  hgvsp: ENSP00000264381.3:p.Tyr61Cys
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.182A>G
  hgvsp: ENSP00000419505.1:p.Tyr61Cys
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6462A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6462A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.182A>G
  hgvsp: ENSP00000419804.1:p.Tyr61Cys
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6462A>G
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 7035
  bin: 6.75e1
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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
  all individuals: 1776
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 322
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genotype quality: GenotypeQuality
  all individuals: 301
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47725
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr61Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-165548646-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548646
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548646
    reference: chr 3
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.176T>C
  hgvsp: ENSP00000264381.3:p.Ile59Thr
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.176T>C
  hgvsp: ENSP00000419804.1:p.Ile59Thr
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6456T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6456T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6456T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.176T>C
  hgvsp: ENSP00000419505.1:p.Ile59Thr
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile59Thr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

3-165548647-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548647
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548647
    reference: chr 3
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6455A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.175A>G
  hgvsp: ENSP00000419804.1:p.Ile59Val
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6455A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6455A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.175A>G
  hgvsp: ENSP00000264381.3:p.Ile59Val
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.175A>G
  hgvsp: ENSP00000419505.1:p.Ile59Val
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile59Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

3-165548656-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548656
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548656
    reference: chr 3
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6446T>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.166T>A
  hgvsp: ENSP00000264381.3:p.Phe56Ile
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.166T>A
  hgvsp: ENSP00000419505.1:p.Phe56Ile
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.166T>A
  hgvsp: ENSP00000419804.1:p.Phe56Ile
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6446T>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6446T>A
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe56Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-165548658-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548658
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548658
    reference: chr 3
allele count: 9
allele frequency: 7.425497508333058e-5
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.164C>G
  hgvsp: ENSP00000419505.1:p.Ala55Gly
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6444C>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.164C>G
  hgvsp: ENSP00000419804.1:p.Ala55Gly
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.164C>G
  hgvsp: ENSP00000264381.3:p.Ala55Gly
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6444C>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6444C>G
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala55Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

3-165548661-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548661
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548661
    reference: chr 3
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6441C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.161C>T
  hgvsp: ENSP00000419505.1:p.Thr54Ile
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.161C>T
  hgvsp: ENSP00000419804.1:p.Thr54Ile
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6441C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.161C>T
  hgvsp: ENSP00000264381.3:p.Thr54Ile
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6441C>T
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7032
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr54Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

3-165548663-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548663
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548663
    reference: chr 3
allele count: 2
allele frequency: 1.650083329208125e-5
allele num: 121206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6439A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.159A>G
  hgvsp: ENST00000497011.1:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6439A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.159A>G
  hgvsp: ENST00000482958.1:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.159A>G
  hgvsp: ENST00000264381.3:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6439A>G
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47734
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val53Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-165548665-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548665
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548665
    reference: chr 3
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6437G>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6437G>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6437G>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.157G>T
  hgvsp: ENSP00000419505.1:p.Val53Leu
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.157G>T
  hgvsp: ENSP00000419804.1:p.Val53Leu
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.157G>T
  hgvsp: ENSP00000264381.3:p.Val53Leu
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val53Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-165548666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548666
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548666
    reference: chr 3
allele count: 27
allele frequency: 2.227906592953214e-4
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.156G>A
  hgvsp: ENST00000264381.3:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6436G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.156G>A
  hgvsp: ENST00000482958.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.156G>A
  hgvsp: ENST00000497011.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6436G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6436G>A
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr52Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-165548667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548667
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548667
    reference: chr 3
allele count: 18
allele frequency: 1.485246550927454e-4
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6435C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.155C>T
  hgvsp: ENSP00000264381.3:p.Thr52Met
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.155C>T
  hgvsp: ENSP00000419505.1:p.Thr52Met
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6435C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6435C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.155C>T
  hgvsp: ENSP00000419804.1:p.Thr52Met
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30539
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr52Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-165548667-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548667
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548667
    reference: chr 3
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.155C>A
  hgvsp: ENSP00000264381.3:p.Thr52Lys
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.155C>A
  hgvsp: ENSP00000419505.1:p.Thr52Lys
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.155C>A
  hgvsp: ENSP00000419804.1:p.Thr52Lys
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6435C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6435C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6435C>A
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr52Lys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-165548672-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548672
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548671
    reference: chr 3
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6429delG
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.149delG
  hgvsp: ENSP00000419505.1:p.Gly50ValfsTer4
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6429delG
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.149delG
  hgvsp: ENSP00000419804.1:p.Gly50ValfsTer4
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.149delG
  hgvsp: ENSP00000264381.3:p.Gly50ValfsTer4
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6429delG
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly50ValfsTer4
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: AC
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

3-165548680-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548680
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548678
    reference: chr 3
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6420_107+6421delCA
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.140_141delCA
  hgvsp: ENSP00000419804.1:p.Thr47SerfsTer21
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.140_141delCA
  hgvsp: ENSP00000264381.3:p.Thr47SerfsTer21
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6420_107+6421delCA
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.140_141delCA
  hgvsp: ENSP00000419505.1:p.Thr47SerfsTer21
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6420_-98+6421delCA
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr47SerfsTer21
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: CTG
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-165548693-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548693
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548693
    reference: chr 3
allele count: 5
allele frequency: 4.127387693780853e-5
allele num: 121142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6409G>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.129G>C
  hgvsp: ENST00000497011.1:c.129G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.129G>C
  hgvsp: ENST00000482958.1:c.129G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6409G>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.129G>C
  hgvsp: ENST00000264381.3:c.129G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6409G>C
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly43Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-165548703-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548703
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548703
    reference: chr 3
allele count: 72
allele frequency: 5.94500866980431e-4
allele num: 121110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6399A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6399A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.119A>G
  hgvsp: ENSP00000419804.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.119A>G
  hgvsp: ENSP00000419505.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.119A>G
  hgvsp: ENSP00000264381.3:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6399A>G
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 30533
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 9.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6995
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys40Arg
num of homozygotes: 1
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

3-165548708-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548708
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548708
    reference: chr 3
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.114T>C
  hgvsp: ENST00000264381.3:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6394T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6394T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6394T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.114T>C
  hgvsp: ENST00000497011.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.114T>C
  hgvsp: ENST00000482958.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47673
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn38Asn
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-165548709-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548709
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548709
    reference: chr 3
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6393A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6393A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.113A>G
  hgvsp: ENSP00000264381.3:p.Asn38Ser
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.113A>G
  hgvsp: ENSP00000419804.1:p.Asn38Ser
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6393A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.113A>G
  hgvsp: ENSP00000419505.1:p.Asn38Ser
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn38Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

3-165548721-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548721
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548720
    reference: chr 3
allele count: 6
allele frequency: 4.95884161459883e-5
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.100delA
  hgvsp: ENSP00000419804.1:p.Ile34LeufsTer11
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6380delA
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6380delA
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6380delA
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.100delA
  hgvsp: ENSP00000264381.3:p.Ile34LeufsTer11
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.100delA
  hgvsp: ENSP00000419505.1:p.Ile34LeufsTer11
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile34LeufsTer11
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: AT
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

3-165548724-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548724
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548724
    reference: chr 3
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.98T>C
  hgvsp: ENSP00000419505.1:p.Ile33Thr
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6378T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6378T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.98T>C
  hgvsp: ENSP00000419804.1:p.Ile33Thr
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.98T>C
  hgvsp: ENSP00000264381.3:p.Ile33Thr
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6378T>C
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile33Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-165548743-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548743
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548743
    reference: chr 3
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6359C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.79C>T
  hgvsp: ENSP00000264381.3:p.His27Tyr
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.79C>T
  hgvsp: ENSP00000419505.1:p.His27Tyr
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6359C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.79C>T
  hgvsp: ENSP00000419804.1:p.His27Tyr
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6359C>T
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His27Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

3-165548751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548751
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548751
    reference: chr 3
allele count: 3
allele frequency: 2.491073652744333e-5
allele num: 120430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6351G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.71G>A
  hgvsp: ENSP00000264381.3:p.Gly24Glu
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6351G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.71G>A
  hgvsp: ENSP00000419804.1:p.Gly24Glu
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6351G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.71G>A
  hgvsp: ENSP00000419505.1:p.Gly24Glu
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly24Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

3-165548755-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548755
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548755
    reference: chr 3
allele count: 51
allele frequency: 4.241375869066232e-4
allele num: 120244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.67A>G
  hgvsp: ENSP00000419804.1:p.Ile23Val
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6347A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.67A>G
  hgvsp: ENSP00000419505.1:p.Ile23Val
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6347A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.67A>G
  hgvsp: ENSP00000264381.3:p.Ile23Val
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6347A>G
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30134
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile23Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-165548757-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548757
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548757
    reference: chr 3
allele count: 1
allele frequency: 8.332777814812346e-6
allele num: 120008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.65T>G
  hgvsp: ENSP00000419505.1:p.Leu22Arg
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6345T>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6345T>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.65T>G
  hgvsp: ENSP00000264381.3:p.Leu22Arg
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.65T>G
  hgvsp: ENSP00000419804.1:p.Leu22Arg
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6345T>G
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu22Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-165548769-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548769
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548769
    reference: chr 3
allele count: 1
allele frequency: 8.395036854211791e-6
allele num: 119118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.53T>G
  hgvsp: ENSP00000419505.1:p.Leu18Trp
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6333T>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.53T>G
  hgvsp: ENSP00000419804.1:p.Leu18Trp
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6333T>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.53T>G
  hgvsp: ENSP00000264381.3:p.Leu18Trp
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6333T>G
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu18Trp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-165548776-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548776
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548776
    reference: chr 3
allele count: 2
allele frequency: 1.681859463823203e-5
allele num: 118916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6326T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.46T>C
  hgvsp: ENSP00000419505.1:p.Phe16Leu
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6326T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.46T>C
  hgvsp: ENSP00000419804.1:p.Phe16Leu
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6326T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.46T>C
  hgvsp: ENSP00000264381.3:p.Phe16Leu
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe16Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/3-165548797-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548797
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548797
    reference: chr 3
allele count: 1
allele frequency: 8.697013445582787e-6
allele num: 114982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.25T>G
  hgvsp: ENSP00000419804.1:p.Cys9Gly
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6305T>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6305T>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.25T>G
  hgvsp: ENSP00000264381.3:p.Cys9Gly
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.25T>G
  hgvsp: ENSP00000419505.1:p.Cys9Gly
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6305T>G
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys9Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

3-165548798-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548798
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548798
    reference: chr 3
allele count: 1
allele frequency: 8.728593125360055e-6
allele num: 114566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6304A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.24A>G
  hgvsp: ENSP00000419804.1:p.Ile8Met
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.24A>G
  hgvsp: ENSP00000264381.3:p.Ile8Met
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6304A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6304A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.24A>G
  hgvsp: ENSP00000419505.1:p.Ile8Met
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile8Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

3-165548801-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548801
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548801
    reference: chr 3
allele count: 4
allele frequency: 3.518153672952434e-5
allele num: 113696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6301C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.21C>A
  hgvsp: ENST00000482958.1:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6301C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.21C>A
  hgvsp: ENST00000264381.3:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6301C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.21C>A
  hgvsp: ENST00000497011.1:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17333
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile7Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

3-165548803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548803
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548803
    reference: chr 3
allele count: 4
allele frequency: 3.563347408555597e-5
allele num: 112254
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.19A>G
  hgvsp: ENSP00000264381.3:p.Ile7Val
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6299A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.19A>G
  hgvsp: ENSP00000419505.1:p.Ile7Val
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6299A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6299A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.19A>G
  hgvsp: ENSP00000419804.1:p.Ile7Val
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25145
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile7Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-165548806-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548806
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548806
    reference: chr 3
allele count: 75
allele frequency: 6.732979029014651e-4
allele num: 111392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.16A>T
  hgvsp: ENSP00000419505.1:p.Thr6Ser
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.16A>T
  hgvsp: ENSP00000419804.1:p.Thr6Ser
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6296A>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6296A>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.16A>T
  hgvsp: ENSP00000264381.3:p.Thr6Ser
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6296A>T
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24539
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 16220
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr6Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-165548808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548808
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548808
    reference: chr 3
allele count: 1
allele frequency: 9.064046552943095e-6
allele num: 110326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.14T>C
  hgvsp: ENSP00000419804.1:p.Val5Ala
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.14T>C
  hgvsp: ENSP00000419505.1:p.Val5Ala
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6294T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6294T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.14T>C
  hgvsp: ENSP00000264381.3:p.Val5Ala
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6294T>C
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val5Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-165548813-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548813
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548813
    reference: chr 3
allele count: 1
allele frequency: 9.277642736533502e-6
allele num: 107786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.9C>A
  hgvsp: ENSP00000419505.1:p.Ser3Arg
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.9C>A
  hgvsp: ENSP00000419804.1:p.Ser3Arg
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6289C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6289C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6289C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.9C>A
  hgvsp: ENSP00000264381.3:p.Ser3Arg
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser3Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

3-165548820-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548820
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548820
    reference: chr 3
allele count: 1
allele frequency: 9.630385793254877e-6
allele num: 103838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6282T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6282T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.2T>C
  hgvsp: ENSP00000419505.1:p.Met1?
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.2T>C
  hgvsp: ENSP00000264381.3:p.Met1?
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.2T>C
  hgvsp: ENSP00000419804.1:p.Met1?
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6282T>C
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

3-165548821-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548821
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548821
    reference: chr 3
allele count: 1
allele frequency: 9.754574895626049e-6
allele num: 102516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6281A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.1A>G
  hgvsp: ENSP00000264381.3:p.Met1?
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6281A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6281A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.1A>G
  hgvsp: ENSP00000419804.1:p.Met1?
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.1A>G
  hgvsp: ENSP00000419505.1:p.Met1?
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

3-165548836-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548836
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548836
    reference: chr 3
allele count: 2
allele frequency: 2.132650885050117e-5
allele num: 93780
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-8-7C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6266C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6266C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-8-7C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-8-7C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6266C>A
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21530
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
hgvs: c.-8-7C>A
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-165548840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548840
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548840
    reference: chr 3
allele count: 1
allele frequency: 1.092275428171968e-5
allele num: 91552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-8-11C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-8-11C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6262C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6262C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6262C>T
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-8-11C>T
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
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genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/3-165548844-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548844
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548844
    reference: chr 3
allele count: 1
allele frequency: 1.113957892391668e-5
allele num: 89770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-8-15T>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6258T>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6258T>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-8-15T>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6258T>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-8-15T>G
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24483
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 7.5e0
  variant carriers: 0
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: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-165548852-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548852
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548851
    reference: chr 3
allele count: 1
allele frequency: 1.19497155967688e-5
allele num: 83684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-8-24delA
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-8-24delA
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-8-24delA
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6249delA
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6249delA
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6249delA
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: GT
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-165548862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548862
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548862
    reference: chr 3
allele count: 1
allele frequency: 1.342353951890034e-5
allele num: 74496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6240G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6240G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-8-33G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-8-33G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6240G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-8-33G>A
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8008
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

3-165548870-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548870
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548870
    reference: chr 3
allele count: 10
allele frequency: 1.574307304785894e-4
allele num: 63520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6232T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-8-41T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6232T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-8-41T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6232T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-8-41T>C
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21287
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17451
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5329
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

3-165548870-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165548870
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165548870
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 63520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.107+6232T>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.107+6232T>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-8-41T>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-8-41T>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-98+6232T>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-8-41T>A
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17451
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8697
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5329
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4932
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

3-165555125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165555125
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165555125
    reference: chr 3
allele count: 692
allele frequency: 5.664702030124427e-2
allele num: 12216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-32G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-32G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-121G>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.84G>A
  hgvsp: ENST00000479451.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.84G>A
  hgvsp: ENST00000488954.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-32G>A
  variant of: http://identifiers.org/hgnc/983
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 9.75e1
  variant carriers: 662
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.5e0
  variant carriers: 1
hgvs: p.Leu28Leu
num of homozygotes: 25
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-165555133-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165555133
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165555133
    reference: chr 3
allele count: 1
allele frequency: 8.199409642505739e-5
allele num: 12196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.76C>A
  hgvsp: ENSP00000418325.1:p.Gln26Lys
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-40C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.76C>A
  hgvsp: ENSP00000418504.1:p.Gln26Lys
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-40C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-129C>A
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-40C>A
  variant of: http://identifiers.org/hgnc/983
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln26Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

3-165555147-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165555147
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165555146
    reference: chr 3
allele count: 14
allele frequency: 1.149991785772959e-3
allele num: 12174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-55delG
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-55delG
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-55delG
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.61delG
  hgvsp: ENSP00000418504.1:p.Asp21IlefsTer39
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.61delG
  hgvsp: ENSP00000418325.1:p.Asp21IlefsTer39
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-144delG
  variant of: http://identifiers.org/hgnc/983
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp21IlefsTer39
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: TC
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

3-165555150-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165555150
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165555150
    reference: chr 3
allele count: 1
allele frequency: 8.21962847279303e-5
allele num: 12166
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-57A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.59A>G
  hgvsp: ENSP00000418504.1:p.His20Arg
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-57A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-146A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.59A>G
  hgvsp: ENSP00000418325.1:p.His20Arg
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-57A>G
  variant of: http://identifiers.org/hgnc/983
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His20Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-165555190-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165555190
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165555190
    reference: chr 3
allele count: 1
allele frequency: 8.343066911396629e-5
allele num: 11986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-97T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418325
  ensembl transcript: ENST00000479451
  gene symbol: BCHE
  hgvsc: ENST00000479451.1:c.19T>C
  hgvsp: ENSP00000418325.1:p.Trp7Arg
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-97T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000418504
  ensembl transcript: ENST00000488954
  gene symbol: BCHE
  hgvsc: ENST00000488954.1:c.19T>C
  hgvsp: ENSP00000418504.1:p.Trp7Arg
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-97T>C
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000443583
  ensembl transcript: ENST00000540653
  gene symbol: BCHE
  hgvsc: ENST00000540653.1:c.-186T>C
  variant of: http://identifiers.org/hgnc/983
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp7Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-165555250-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165555250
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165555250
    reference: chr 3
allele count: 1
allele frequency: 8.555783709787816e-5
allele num: 11688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419804
  ensembl transcript: ENST00000482958
  gene symbol: BCHE
  hgvsc: ENST00000482958.1:c.-157A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-157A>G
  variant of: http://identifiers.org/hgnc/983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000419505
  ensembl transcript: ENST00000497011
  gene symbol: BCHE
  hgvsc: ENST00000497011.1:c.-157A>G
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

3-165555251-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 165555251
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 165555251
    reference: chr 3
allele count: 1
allele frequency: 8.583690987124464e-5
allele num: 11650
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114200
  ensembl protein: ENSP00000264381
  ensembl transcript: ENST00000264381
  gene symbol: BCHE
  hgvsc: ENST00000264381.3:c.-158C>A
  variant of: http://identifiers.org/hgnc/983
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 5.747126436781609e-3
  allele num: 174
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 128
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3228
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

3-166958537-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958537
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958537
    reference: chr 3
allele count: 1
allele frequency: 8.520209937972871e-6
allele num: 117368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*314A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*373A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.*44A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.645A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*465A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.*44A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.*44A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.*44A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.*44A>C
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5303
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-166958556-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958556
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958556
    reference: chr 3
allele count: 1
allele frequency: 8.481908090043937e-6
allele num: 117898
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.*25C>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.*25C>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*354C>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.*25C>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.*25C>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*446C>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.626C>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.*25C>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*295C>G
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

3-166958556-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958556
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958556
    reference: chr 3
allele count: 2
allele frequency: 1.696381618008787e-5
allele num: 117898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.*25C>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*354C>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*446C>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.*25C>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.*25C>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.*25C>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.*25C>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*295C>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.626C>A
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

3-166958558-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958558
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958558
    reference: chr 3
allele count: 1
allele frequency: 8.468978133098461e-6
allele num: 118078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.*23T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*352T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*444T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.*23T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.624T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.*23T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*293T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.*23T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.*23T>C
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

3-166958561-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958561
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958561
    reference: chr 3
allele count: 1
allele frequency: 8.467830711128423e-6
allele num: 118094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*290G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*441G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.*20G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.*20G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.*20G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.*20G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*349G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.*20G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.621G>C
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

3-166958566-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958566
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958566
    reference: chr 3
allele count: 2
allele frequency: 1.685402726981612e-5
allele num: 118666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.*15T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.*15T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.*15T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.*15T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.*15T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*344T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*436T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.616T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*285T>C
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12702
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

3-166958571-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958571
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958571
    reference: chr 3
allele count: 4
allele frequency: 3.359312012899758e-5
allele num: 119072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*339G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.*10G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.*10G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.*10G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.611G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*431G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*280G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.*10G>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.*10G>C
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

3-166958580-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958580
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958580
    reference: chr 3
allele count: 1
allele frequency: 8.348081610845828e-6
allele num: 119788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.*1A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*422A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.*1A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.602A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*330A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.*1A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*271A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.*1A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.*1A>C
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum

3-166958587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958587
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958587
    reference: chr 3
allele count: 26
allele frequency: 2.162953596326306e-4
allele num: 120206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2397T>C
  hgvsp: ENST00000392767.2:c.2397T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.595T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*264T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2397T>C
  hgvsp: ENST00000392766.2:c.2397T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*323T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2310T>C
  hgvsp: ENST00000392764.1:c.2310T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2514T>C
  hgvsp: ENST00000307529.5:c.2514T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*415T>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2514T>C
  hgvsp: ENST00000455345.2:c.2514T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser838Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-166958588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958588
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958588
    reference: chr 3
allele count: 1
allele frequency: 8.318221896887321e-6
allele num: 120218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2396G>A
  hgvsp: ENSP00000376519.2:p.Ser799Asn
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2513G>A
  hgvsp: ENSP00000390232.2:p.Ser838Asn
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*414G>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2309G>A
  hgvsp: ENSP00000376517.1:p.Ser770Asn
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.594G>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*263G>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2513G>A
  hgvsp: ENSP00000305065.5:p.Ser838Asn
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2396G>A
  hgvsp: ENSP00000376520.2:p.Ser799Asn
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*322G>A
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser838Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-166958589-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958589
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958589
    reference: chr 3
allele count: 3
allele frequency: 2.494387627837366e-5
allele num: 120270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2512A>C
  hgvsp: ENSP00000305065.5:p.Ser838Arg
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2395A>C
  hgvsp: ENSP00000376520.2:p.Ser799Arg
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2512A>C
  hgvsp: ENSP00000390232.2:p.Ser838Arg
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.593A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*262A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2395A>C
  hgvsp: ENSP00000376519.2:p.Ser799Arg
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*321A>C
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2308A>C
  hgvsp: ENSP00000376517.1:p.Ser770Arg
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*413A>C
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8335
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser838Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

3-166958590-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958590
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958590
    reference: chr 3
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*320G>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*261G>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2511G>A
  hgvsp: ENST00000307529.5:c.2511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*412G>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2511G>A
  hgvsp: ENST00000455345.2:c.2511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2394G>A
  hgvsp: ENST00000392766.2:c.2394G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2394G>A
  hgvsp: ENST00000392767.2:c.2394G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2307G>A
  hgvsp: ENST00000392764.1:c.2307G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.592G>A
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys837Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-166958592-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958592
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958592
    reference: chr 3
allele count: 1
allele frequency: 8.307717869901138e-6
allele num: 120370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2392A>G
  hgvsp: ENSP00000376519.2:p.Lys798Glu
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*410A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2392A>G
  hgvsp: ENSP00000376520.2:p.Lys798Glu
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2509A>G
  hgvsp: ENSP00000305065.5:p.Lys837Glu
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2305A>G
  hgvsp: ENSP00000376517.1:p.Lys769Glu
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2509A>G
  hgvsp: ENSP00000390232.2:p.Lys837Glu
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*259A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*318A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.590A>G
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11852
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys837Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

3-166958593-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958593
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958593
    reference: chr 3
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2508A>G
  hgvsp: ENST00000307529.5:c.2508A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2391A>G
  hgvsp: ENST00000392766.2:c.2391A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2508A>G
  hgvsp: ENST00000455345.2:c.2508A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.589A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2391A>G
  hgvsp: ENST00000392767.2:c.2391A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2304A>G
  hgvsp: ENST00000392764.1:c.2304A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*258A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*409A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*317A>G
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser836Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-166958599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958599
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958599
    reference: chr 3
allele count: 2
allele frequency: 1.65977858553669e-5
allele num: 120498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2298G>A
  hgvsp: ENST00000392764.1:c.2298G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*252G>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.583G>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*311G>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2385G>A
  hgvsp: ENST00000392766.2:c.2385G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2385G>A
  hgvsp: ENST00000392767.2:c.2385G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2502G>A
  hgvsp: ENST00000307529.5:c.2502G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*403G>A
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2502G>A
  hgvsp: ENST00000455345.2:c.2502G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro834Pro
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

3-166958600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958600
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958600
    reference: chr 3
allele count: 3
allele frequency: 2.489172101359088e-5
allele num: 120522
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2501C>T
  hgvsp: ENSP00000390232.2:p.Pro834Leu
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2384C>T
  hgvsp: ENSP00000376519.2:p.Pro795Leu
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*310C>T
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*402C>T
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.582C>T
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2384C>T
  hgvsp: ENSP00000376520.2:p.Pro795Leu
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2297C>T
  hgvsp: ENSP00000376517.1:p.Pro766Leu
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2501C>T
  hgvsp: ENSP00000305065.5:p.Pro834Leu
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*251C>T
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro834Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

3-166958602-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958602
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958602
    reference: chr 3
allele count: 2
allele frequency: 1.659145208388638e-5
allele num: 120544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2295A>G
  hgvsp: ENST00000392764.1:c.2295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2382A>G
  hgvsp: ENST00000392766.2:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2499A>G
  hgvsp: ENST00000307529.5:c.2499A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*400A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2499A>G
  hgvsp: ENST00000455345.2:c.2499A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2382A>G
  hgvsp: ENST00000392767.2:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*308A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*249A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.580A>G
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu833Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-166958604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958604
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958604
    reference: chr 3
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*306C>T
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2293C>T
  hgvsp: ENST00000392764.1:c.2293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.578C>T
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2497C>T
  hgvsp: ENST00000307529.5:c.2497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*398C>T
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2497C>T
  hgvsp: ENST00000455345.2:c.2497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2380C>T
  hgvsp: ENST00000392766.2:c.2380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2380C>T
  hgvsp: ENST00000392767.2:c.2380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*247C>T
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu833Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-166958617-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958617
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958617
    reference: chr 3
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*234A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*385A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2484A>G
  hgvsp: ENST00000307529.5:c.2484A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2280A>G
  hgvsp: ENST00000392764.1:c.2280A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.565A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2367A>G
  hgvsp: ENST00000392767.2:c.2367A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2484A>G
  hgvsp: ENST00000455345.2:c.2484A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*293A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2367A>G
  hgvsp: ENST00000392766.2:c.2367A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln828Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-166958623-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958623
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958623
    reference: chr 3
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*228C>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*379C>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2478C>G
  hgvsp: ENSP00000305065.5:p.Asn826Lys
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2361C>G
  hgvsp: ENSP00000376520.2:p.Asn787Lys
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2478C>G
  hgvsp: ENSP00000390232.2:p.Asn826Lys
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2274C>G
  hgvsp: ENSP00000376517.1:p.Asn758Lys
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*287C>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2361C>G
  hgvsp: ENSP00000376519.2:p.Asn787Lys
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.559C>G
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn826Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-166958625-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958625
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958625
    reference: chr 3
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2476A>G
  hgvsp: ENSP00000390232.2:p.Asn826Asp
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2272A>G
  hgvsp: ENSP00000376517.1:p.Asn758Asp
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2359A>G
  hgvsp: ENSP00000376520.2:p.Asn787Asp
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*377A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*226A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2359A>G
  hgvsp: ENSP00000376519.2:p.Asn787Asp
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.557A>G
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2476A>G
  hgvsp: ENSP00000305065.5:p.Asn826Asp
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*285A>G
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn826Asp
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: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-166958626-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166958626
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 166958626
    reference: chr 3
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000419264
  ensembl transcript: ENST00000464922
  gene symbol: ZBBX
  hgvsc: ENST00000464922.1:c.*284C>T
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000418861
  ensembl transcript: ENST00000492642
  gene symbol: ZBBX
  hgvsc: ENST00000492642.1:c.*225C>T
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376520
  ensembl transcript: ENST00000392767
  gene symbol: ZBBX
  hgvsc: ENST00000392767.2:c.2358C>T
  hgvsp: ENST00000392767.2:c.2358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000417678
  ensembl transcript: ENST00000494898
  gene symbol: ZBBX
  hgvsc: ENST00000494898.1:c.*376C>T
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000390232
  ensembl transcript: ENST00000455345
  gene symbol: ZBBX
  hgvsc: ENST00000455345.2:c.2475C>T
  hgvsp: ENST00000455345.2:c.2475C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376519
  ensembl transcript: ENST00000392766
  gene symbol: ZBBX
  hgvsc: ENST00000392766.2:c.2358C>T
  hgvsp: ENST00000392766.2:c.2358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000376517
  ensembl transcript: ENST00000392764
  gene symbol: ZBBX
  hgvsc: ENST00000392764.1:c.2271C>T
  hgvsp: ENST00000392764.1:c.2271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169064
  ensembl transcript: ENST00000465071
  gene symbol: ZBBX
  hgvsc: ENST00000465071.1:n.556C>T
  variant of: http://identifiers.org/hgnc/26245
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169064
  ensembl protein: ENSP00000305065
  ensembl transcript: ENST00000307529
  gene symbol: ZBBX
  hgvsc: ENST00000307529.5:c.2475C>T
  hgvsp: ENST00000307529.5:c.2475C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26245
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu825Leu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 766
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.338e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

FS
type: SiteQuality
SIO_000300: 3.933e0

DP
type: SiteQuality
SIO_000300: 1.619343e6

QD
type: SiteQuality
SIO_000300: 1.364e1

GenotypeQuality
all individuals: 766
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47723
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000300030003e-5
allele num: 66660
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

DP
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SIO_000300: 1.619769e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e0

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.904e1

FS
type: SiteQuality
SIO_000300: 6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.91e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 766
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.619725e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.491e1

FS
type: SiteQuality
SIO_000300: 2.959e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.717e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.667e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.553e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.619781e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 321
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.58e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.26e-1

FS
type: SiteQuality
SIO_000300: 4.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.415e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.296e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.619687e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.200300075018755e-4
allele num: 66650
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

VQSLOD
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.620138e6

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
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East Asian
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allele num: 8638
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Other
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allele num: 904
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.79e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66652
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Other
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allele num: 904
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South Asian
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allele frequency: 6.056935190793458e-5
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Latino
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East Asian
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
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allele num: 8634
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African
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allele frequency: 2.210688196847366e-3
allele num: 10404
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 4.50112528132033e-5
allele num: 66650
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
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allele num: 904
num of homozygotes: 0

African
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allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.400672188212699e-4
allele num: 66648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 1.620271e6

FS
type: SiteQuality
SIO_000300: 1.096e0

QD
type: SiteQuality
SIO_000300: 1.359e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

GenotypeQuality
all individuals: 960
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47730
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.741856819369448e-4
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.359e1

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

DP
type: SiteQuality
SIO_000300: 1.620271e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.096e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7038
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 1.017e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.212e0

DP
type: SiteQuality
SIO_000300: 1.619103e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 6.035e1

QD
type: SiteQuality
SIO_000300: 1.239e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.634e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7029
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

FS
type: SiteQuality
SIO_000300: 3.2194e1

DP
type: SiteQuality
SIO_000300: 1.618789e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.123e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 9.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47712
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.486750348675035e-4
allele num: 11472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e-1

DP
type: SiteQuality
SIO_000300: 1.618398e6

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 6.095e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.375e1

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47614
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 7
allele frequency: 6.107136625370791e-4
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

African
type: Population
allele count: 64
allele frequency: 6.156213928434013e-3
allele num: 10396
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.620408e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

QD
type: SiteQuality
SIO_000300: 1.514e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1749
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

DP
type: SiteQuality
SIO_000300: 1.616044e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 7.29e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47658
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 746
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.714e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.615925e6

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6974
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.016590526568887e-5
allele num: 66544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

DP
type: SiteQuality
SIO_000300: 1.614343e6

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

FS
type: SiteQuality
SIO_000300: 1.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

QD
type: SiteQuality
SIO_000300: 1.472e1

MQ
type: SiteQuality
SIO_000300: 6.013e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
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GenotypeQuality
all individuals: 916
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GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
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variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.839e0

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

DP
type: SiteQuality
SIO_000300: 1.61339e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

QD
type: SiteQuality
SIO_000300: 1.537e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 308
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GenotypeQuality
all individuals: 734
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 502
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47225
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 1.545e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.265e0

DP
type: SiteQuality
SIO_000300: 1.608122e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 3.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.204e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.448e0

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47059
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.492433061699651e-4
allele num: 8590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.104e0

DP
type: SiteQuality
SIO_000300: 1.604936e6

VQSLOD
type: SiteQuality
SIO_000300: -1.625e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.36e0

FS
type: SiteQuality
SIO_000300: 2.988e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 9.75e1
variant carriers: 51

GenotypeQuality
all individuals: 1506
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
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variant carriers: 0

GenotypeQuality
all individuals: 6845
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66024
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.788890841975742e-5
allele num: 11378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 50
allele frequency: 4.84027105517909e-3
allele num: 10330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

DP
type: SiteQuality
SIO_000300: 1.602547e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

QD
type: SiteQuality
SIO_000300: 1.474e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46373
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65836
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.734e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.597646e6

MQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.867e0

FS
type: SiteQuality
SIO_000300: 8.018000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
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variant carriers: 0

GenotypeQuality
all individuals: 45144
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65242
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171783454417624e-4
allele num: 8534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.581476e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

FS
type: SiteQuality
SIO_000300: 1.078e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 45804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6361
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.223091976516634e-4
allele num: 16352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 7.163e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.576046e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.85e0

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
all individuals: 314
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.019783805833163e-4
allele num: 9806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16014
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.635e1

QD
type: SiteQuality
SIO_000300: 1.38e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -1.031e0

FS
type: SiteQuality
SIO_000300: 1.296e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.613e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

DP
type: SiteQuality
SIO_000300: 1.505483e6

GenotypeQuality
all individuals: 1303
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607510288065844e-5
allele num: 62208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 1.702e0

VQSLOD
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

QD
type: SiteQuality
SIO_000300: 8.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.498923e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
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variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.11946446961895e-4
allele num: 9710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 5.118e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 1.483222e6

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
all individuals: 416
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15752
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.696174459434485e-4
allele num: 10822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.158e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

FS
type: SiteQuality
SIO_000300: 1.431e0

DP
type: SiteQuality
SIO_000300: 1.455672e6

VQSLOD
type: SiteQuality
SIO_000300: 9.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

GenotypeQuality
all individuals: 5263
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 9.75e1
variant carriers: 75

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 75
allele frequency: 7.871536523929471e-3
allele num: 9528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.438999e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.353e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.661e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.68044632654433e-5
allele num: 59508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 4.063e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.417293e6

MQRankSum
type: SiteQuality
SIO_000300: 8.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

QD
type: SiteQuality
SIO_000300: 1.115e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

GenotypeQuality
all individuals: 601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.724970675498516e-5
allele num: 57972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.1e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.366191e6

GenotypeQuality
all individuals: 130
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 343
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variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.638343069569835e-5
allele num: 15064
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.067e1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

DP
type: SiteQuality
SIO_000300: 1.281735e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.522e0

GenotypeQuality
all individuals: 266
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
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variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.694336591243807e-5
allele num: 14938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.346e0

VQSLOD
type: SiteQuality
SIO_000300: -1.543e0

QD
type: SiteQuality
SIO_000300: 1.764e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 1.988e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

DP
type: SiteQuality
SIO_000300: 1.252779e6

GenotypeQuality
all individuals: 868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 27504
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
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variant carriers: 0

GenotypeQuality
all individuals: 257
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variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15370
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.515090543259558e-4
allele num: 7952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 2.161e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.384e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

DP
type: SiteQuality
SIO_000300: 1.035802e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

GenotypeQuality
all individuals: 28722
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12683
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 221
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
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variant carriers: 0

GenotypeQuality
all individuals: 2753
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.148633126579371e-4
allele num: 8706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48204
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.142e0

QD
type: SiteQuality
SIO_000300: 2.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.593e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.87317e5

GenotypeQuality
all individuals: 275
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
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GenotypeQuality
all individuals: 863
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5800
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.639881928501148e-4
allele num: 6098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13944
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.447e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.934e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

DP
type: SiteQuality
SIO_000300: 9.45887e5

GenotypeQuality
all individuals: 1087
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7452
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variant carriers: 0

GenotypeQuality
all individuals: 29084
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variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 6.75e1
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GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.425007425007424e-5
allele num: 13468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7002
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.056e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.141e0

MQ
type: SiteQuality
SIO_000300: 6.054e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 5.94e0

DP
type: SiteQuality
SIO_000300: 8.69041e5

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 3.75e1
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GenotypeQuality
all individuals: 860
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 246
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GenotypeQuality
all individuals: 624
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.641589180050718e-5
allele num: 37856
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.027e1

VQSLOD
type: SiteQuality
SIO_000300: -2.217e0

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 7.99063e5

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
all individuals: 8697
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2621
bin: 6.25e1
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GenotypeQuality
all individuals: 872
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 482
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GenotypeQuality
all individuals: 591
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 3.166561114629512e-4
allele num: 31580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3744
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.65101e5

QD
type: SiteQuality
SIO_000300: 1.327e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.65101e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

QD
type: SiteQuality
SIO_000300: 1.327e1

GenotypeQuality
all individuals: 236
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3951
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 272
allele frequency: 7.666290868094701e-2
allele num: 3548
num of homozygotes: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 2.717391304347826e-2
allele num: 184
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 2.962962962962963e-2
allele num: 540
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 4.545454545454546e-2
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 393
allele frequency: 5.160189075630252e-2
allele num: 7616
num of homozygotes: 18

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 1.209e0

DP
type: SiteQuality
SIO_000300: 1.76621e5

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

GenotypeQuality
all individuals: 266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.824858757062147e-4
allele num: 3540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.051e0

QD
type: SiteQuality
SIO_000300: 1.219e1

DP
type: SiteQuality
SIO_000300: 1.56421e5

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.362e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.266e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.074e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4261
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 3.96600566572238e-3
allele num: 3530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

DP
type: SiteQuality
SIO_000300: 1.55884e5

FS
type: SiteQuality
SIO_000300: 3.338e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.49e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

MQ
type: SiteQuality
SIO_000300: 5.998e1

QD
type: SiteQuality
SIO_000300: 1.233e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

GenotypeQuality
all individuals: 1606
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.313025210084034e-4
allele num: 7616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 6.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.31e-2

FS
type: SiteQuality
SIO_000300: 1.409e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.788e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

DP
type: SiteQuality
SIO_000300: 1.55138e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

GenotypeQuality
all individuals: 290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4018
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.316135825217162e-4
allele num: 7598
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 2.932e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

QD
type: SiteQuality
SIO_000300: 1.668e1

DP
type: SiteQuality
SIO_000300: 1.51784e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.326963906581741e-4
allele num: 7536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.40427e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.15e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.369e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.7e0

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.40014e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.31e-2

QD
type: SiteQuality
SIO_000300: 1.092e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 3.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.597e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12612
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3212
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3049
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521051350693599e-5
allele num: 65744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 8.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.345e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.766e0

QD
type: SiteQuality
SIO_000300: 1.228e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

DP
type: SiteQuality
SIO_000300: 2.226528e6

GenotypeQuality
all individuals: 3044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5288
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 4324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8150
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12594
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1983
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.516e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 2.691e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

DP
type: SiteQuality
SIO_000300: 2.244167e6

QD
type: SiteQuality
SIO_000300: 1.314e1

MQ
type: SiteQuality
SIO_000300: 5.989e1

GenotypeQuality
all individuals: 1410
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8150
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1983
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variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12594
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3044
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.825938566552901e-5
allele num: 14650
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.023960679909891e-4
allele num: 9766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.691e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.516e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

DP
type: SiteQuality
SIO_000300: 2.244167e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14760
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.023122570083896e-4
allele num: 9774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65910
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
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VQSLOD
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SIO_000300: -2.717e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.389e0

DP
type: SiteQuality
SIO_000300: 2.246525e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

DP
type: SiteQuality
SIO_000300: 2.250405e6

FS
type: SiteQuality
SIO_000300: 1.6098e1

VQSLOD
type: SiteQuality
SIO_000300: -7.628e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.126e1

MQRankSum
type: SiteQuality
SIO_000300: 8.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66036
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.316135825217162e-4
allele num: 15196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.226e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.257667e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.792e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 19724
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.582978173834431e-4
allele num: 15486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

FS
type: SiteQuality
SIO_000300: 2.185e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 2.265699e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.398e1

VQSLOD
type: SiteQuality
SIO_000300: 9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.16e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4333
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507204437209863e-5
allele num: 66348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.521e1

DP
type: SiteQuality
SIO_000300: 2.274907e6

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 26

GenotypeQuality
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GenotypeQuality
all individuals: 1981
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.105166428425567e-4
allele num: 9794
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 17
allele frequency: 1.973073351903435e-3
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.843657817109145e-4
allele num: 16272
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.281806e6

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11550
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

VQSLOD
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -3.957e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.597852441981296e-4
allele num: 11548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.146e1

DP
type: SiteQuality
SIO_000300: 2.281528e6

FS
type: SiteQuality
SIO_000300: 1.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.211e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
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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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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.19e1

MQ
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SIO_000300: 5.832e1

FS
type: SiteQuality
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VQSLOD
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MQRankSum
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SIO_000300: -1.005e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.731e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

DP
type: SiteQuality
SIO_000300: 2.282142e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.107243190423842e-5
allele num: 16374
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 2.282642e6

QD
type: SiteQuality
SIO_000300: 1.266e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.294e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.142e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.283105e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

FS
type: SiteQuality
SIO_000300: 9.993e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

QD
type: SiteQuality
SIO_000300: 1.439e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.238e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.16e-1

DP
type: SiteQuality
SIO_000300: 2.285241e6

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

QD
type: SiteQuality
SIO_000300: 1.099e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004085556356645e-5
allele num: 66576
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.6e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.213739531496541e-4
allele num: 16478
num of homozygotes: 0

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 frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
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African
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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: 66588
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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African
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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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num of homozygotes: 0

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 count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

European (Finnish)
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.284e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

South Asian
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East Asian
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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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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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.0e-1

DP
type: SiteQuality
SIO_000300: 2.285673e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5303
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12562
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8365
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3243
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 2.285796e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

FS
type: SiteQuality
SIO_000300: 8.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 1.553e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8372
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21302
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12562
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.402e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.64e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 2.285779e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.762e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8371
bin: 6.75e1
variant carriers: 0