1-204213995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204213995
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204213995
    reference: chr 1
allele count: 8
allele frequency: 2.809975412715139e-4
allele num: 28470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2229C>T
  hgvsp: ENST00000414478.1:c.2229C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2169C>T
  hgvsp: ENST00000272203.3:c.2169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1207
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  variant carriers: 7
hgvs: p.Asn723Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 2.75027502750275e-4
  allele num: 3636
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

1-204214011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214011
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 26906
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2153C>T
  hgvsp: ENSP00000272203.2:p.Thr718Ile
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2213C>T
  hgvsp: ENSP00000402046.1:p.Thr738Ile
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr718Ile
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13138
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-204214013-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214013
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214013
    reference: chr 1
allele count: 4
allele frequency: 1.49622203935064e-4
allele num: 26734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2211C>A
  hgvsp: ENST00000414478.1:c.2211C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2151C>A
  hgvsp: ENST00000272203.3:c.2151C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1067
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hgvs: p.Pro717Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 2.306273062730627e-4
  allele num: 13008
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-204214032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214032
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214032
    reference: chr 1
allele count: 1
allele frequency: 4.10711352061771e-5
allele num: 24348
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2132C>T
  hgvsp: ENSP00000272203.2:p.Ser711Leu
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2192C>T
  hgvsp: ENSP00000402046.1:p.Ser731Leu
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 65
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hgvs: p.Ser711Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 202
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-204214037-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214037
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214037
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 23524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2187G>C
  hgvsp: ENST00000414478.1:c.2187G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2127G>C
  hgvsp: ENST00000272203.3:c.2127G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23086
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23930
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu709Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11704
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

1-204214047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214047
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214047
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 18236
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2117C>T
  hgvsp: ENSP00000272203.2:p.Pro706Leu
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2177C>T
  hgvsp: ENSP00000402046.1:p.Pro726Leu
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 18122
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28967
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro706Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1176
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-204214052-CAGGGGGCTGGTGAGGCTGGCAGAGCTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214025
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 17936
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsp: ENSP00000272203.2:p.Ser697_Ser705del
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsp: ENSP00000402046.1:p.Ser717_Ser725del
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: inframe deletion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30187
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29924
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15670
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 201
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genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser697_Ser705del
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1164
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: CAGGGGGCTGGTGAGGCTGGCAGAGCTG
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-204214061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214061
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214061
    reference: chr 1
allele count: 1
allele frequency: 6.59108884787767e-5
allele num: 15172
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2103C>T
  hgvsp: ENST00000272203.3:c.2103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2163C>T
  hgvsp: ENST00000414478.1:c.2163C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32807
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 198
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 183
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr701Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 660
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

1-204214075-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214075
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214075
    reference: chr 1
allele count: 15
allele frequency: 1.138260737592958e-3
allele num: 13178
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2089T>C
  hgvsp: ENSP00000272203.2:p.Ser697Pro
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2149T>C
  hgvsp: ENSP00000402046.1:p.Ser717Pro
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35884
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12202
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser697Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 80
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

1-204214076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214076
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214076
    reference: chr 1
allele count: 1
allele frequency: 7.882705344474224e-5
allele num: 12686
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2088C>T
  hgvsp: ENST00000272203.3:c.2088C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2148C>T
  hgvsp: ENST00000414478.1:c.2148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1200
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genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser696Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1966
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-204214091-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214091
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214091
    reference: chr 1
allele count: 1
allele frequency: 8.614748449345279e-5
allele num: 11608
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2073G>A
  hgvsp: ENST00000272203.3:c.2073G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2133G>A
  hgvsp: ENST00000414478.1:c.2133G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 199
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  variant carriers: 0
hgvs: p.Pro691Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 56
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-204214092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214092
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214092
    reference: chr 1
allele count: 2
allele frequency: 1.723543605653223e-4
allele num: 11604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2132C>T
  hgvsp: ENSP00000402046.1:p.Pro711Leu
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2072C>T
  hgvsp: ENSP00000272203.2:p.Pro691Leu
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1540
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro691Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 52
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

1-204214107-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214107
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214107
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 10722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2117A>G
  hgvsp: ENSP00000402046.1:p.Tyr706Cys
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2057A>G
  hgvsp: ENSP00000272203.2:p.Tyr686Cys
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34871
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr686Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1208
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum

1-204214126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214126
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214126
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 9810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2098C>T
  hgvsp: ENSP00000402046.1:p.Leu700Phe
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2038C>T
  hgvsp: ENSP00000272203.2:p.Leu680Phe
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35281
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 674
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu680Phe
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 80
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

1-204214126-GTCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214126
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214123
    reference: chr 1
allele count: 1
allele frequency: 1.019367991845056e-4
allele num: 9810
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2035_2037delGGA
  hgvsp: ENSP00000272203.2:p.Gly679del
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2095_2097delGGA
  hgvsp: ENSP00000402046.1:p.Gly699del
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 202
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly679del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: GTCC
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-204214170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214170
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214170
    reference: chr 1
allele count: 1
allele frequency: 1.142857142857143e-4
allele num: 8750
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2033-39C>T
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2093-39C>T
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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genotype depth: GenotypeDepth
  all individuals: 721
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 21838
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 162
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 418
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-204214175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214175
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214175
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 8682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2093-44G>A
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2033-44G>A
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 334
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 306
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 48
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS

1-204214694-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214694
    reference: chr 1
allele count: 1
allele frequency: 8.567071603584462e-6
allele num: 116726
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2092+49T>C
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2032+49T>C
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11438
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-204214707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214707
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214707
    reference: chr 1
allele count: 1
allele frequency: 8.557247989046722e-6
allele num: 116860
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2032+36G>A
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2092+36G>A
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11444
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-204214714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214714
    reference: chr 1
allele count: 1
allele frequency: 8.520500323779012e-6
allele num: 117364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2032+29G>A
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2092+29G>A
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6594
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-204214722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214722
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214722
    reference: chr 1
allele count: 1
allele frequency: 8.470125866070369e-6
allele num: 118062
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2032+21C>T
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2092+21C>T
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 7.027406886858749e-5
  allele num: 14230
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-204214722-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214722
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214722
    reference: chr 1
allele count: 1
allele frequency: 8.470125866070369e-6
allele num: 118062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2092+21C>G
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2032+21C>G
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10354
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-204214723-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214723
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214723
    reference: chr 1
allele count: 2
allele frequency: 1.693996476487329e-5
allele num: 118064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2092+20G>T
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2032+20G>T
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7858
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65854
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
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1-204214732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214732
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214732
    reference: chr 1
allele count: 1
allele frequency: 8.408731626921395e-6
allele num: 118924
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2032+11C>T
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2092+11C>T
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
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genotype depth: GenotypeDepth
  all individuals: 96
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 880
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-204214734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214734
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214734
    reference: chr 1
allele count: 1
allele frequency: 8.399549784131571e-6
allele num: 119054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2092+9C>T
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2032+9C>T
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10366
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

1-204214739-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214739
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214739
    reference: chr 1
allele count: 11
allele frequency: 9.207024122403201e-5
allele num: 119474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2092+4G>C
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2032+4G>C
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 250
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 5253
  bin: 7.75e1
  variant carriers: 0
hgvs: c.2032+4G>C
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66216
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-204214739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214739
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214739
    reference: chr 1
allele count: 1
allele frequency: 8.370021929457456e-6
allele num: 119474
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2032+4G>A
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2092+4G>A
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
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genotype depth: GenotypeDepth
  all individuals: 3935
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10116
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hgvs: c.2032+4G>A
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.157407407407407e-4
  allele num: 8640
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-204214750-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214750
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214750
    reference: chr 1
allele count: 5
allele frequency: 4.157450983652902e-5
allele num: 120266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2085G>A
  hgvsp: ENST00000414478.1:c.2085G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2025G>A
  hgvsp: ENST00000272203.3:c.2025G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Lys675Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 3
  allele frequency: 2.592912705272256e-4
  allele num: 11570
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-204214755-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214755
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214755
    reference: chr 1
allele count: 18
allele frequency: 1.494123115744737e-4
allele num: 120472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2080G>A
  hgvsp: ENSP00000402046.1:p.Ala694Thr
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2020G>A
  hgvsp: ENSP00000272203.2:p.Ala674Thr
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ala674Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

1-204214756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214756
    reference: chr 1
allele count: 10
allele frequency: 8.29091150281062e-5
allele num: 120614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2079C>T
  hgvsp: ENST00000414478.1:c.2079C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2019C>T
  hgvsp: ENST00000272203.3:c.2019C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2869
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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: 46
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr673Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.007699711260828e-5
  allele num: 66496
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

1-204214757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214757
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214757
    reference: chr 1
allele count: 16
allele frequency: 1.32597417665291e-4
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2078C>T
  hgvsp: ENSP00000402046.1:p.Thr693Ile
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2018C>T
  hgvsp: ENSP00000272203.2:p.Thr673Ile
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
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genotype depth: GenotypeDepth
  all individuals: 7050
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 370
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 562
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23337
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  variant carriers: 0
hgvs: p.Thr673Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 15
  allele frequency: 9.364464976900986e-4
  allele num: 16018
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-204214757-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214757
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214757
    reference: chr 1
allele count: 2
allele frequency: 1.657467720816137e-5
allele num: 120666
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2018C>A
  hgvsp: ENSP00000272203.2:p.Thr673Asn
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2078C>A
  hgvsp: ENSP00000402046.1:p.Thr693Asn
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2139
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hgvs: p.Thr673Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10394
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP

1-204214762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214762
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214762
    reference: chr 1
allele count: 9
allele frequency: 7.446509241945359e-5
allele num: 120862
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2013G>A
  hgvsp: ENST00000272203.3:c.2013G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2073G>A
  hgvsp: ENST00000414478.1:c.2073G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8211
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hgvs: p.Thr671Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.192717364379489e-5
  allele num: 16148
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS

1-204214763-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214763
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214763
    reference: chr 1
allele count: 4
allele frequency: 3.308519437551696e-5
allele num: 120900
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2012C>T
  hgvsp: ENSP00000272203.2:p.Thr671Met
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2072C>T
  hgvsp: ENSP00000402046.1:p.Thr691Met
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 5270
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr671Met
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 2.312673450508788e-4
  allele num: 8648
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-204214766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214766
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214766
    reference: chr 1
allele count: 13
allele frequency: 1.074486725956293e-4
allele num: 120988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2069G>A
  hgvsp: ENSP00000402046.1:p.Gly690Asp
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2009G>A
  hgvsp: ENSP00000272203.2:p.Gly670Asp
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3944
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 99
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 23674
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly670Asp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

1-204214769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214769
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214769
    reference: chr 1
allele count: 7
allele frequency: 5.781301618764453e-5
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2066G>A
  hgvsp: ENSP00000402046.1:p.Arg689Gln
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2006G>A
  hgvsp: ENSP00000272203.2:p.Arg669Gln
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Arg669Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-204214770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214770
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214770
    reference: chr 1
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2065C>T
  hgvsp: ENSP00000402046.1:p.Arg689Trp
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2005C>T
  hgvsp: ENSP00000272203.2:p.Arg669Trp
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
hgvs: p.Arg669Trp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66628
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

1-204214774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214774
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214774
    reference: chr 1
allele count: 89
allele frequency: 7.344567495750053e-4
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.2001C>T
  hgvsp: ENST00000272203.3:c.2001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2061C>T
  hgvsp: ENST00000414478.1:c.2061C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 89
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro667Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 77
  allele frequency: 1.155288822205551e-3
  allele num: 66650
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

1-204214777-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214777
    reference: chr 1
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1998C>A
  hgvsp: ENSP00000272203.2:p.Asn666Lys
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2058C>A
  hgvsp: ENSP00000402046.1:p.Asn686Lys
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 27
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn666Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-204214778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214778
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214778
    reference: chr 1
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2057A>G
  hgvsp: ENSP00000402046.1:p.Asn686Ser
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1997A>G
  hgvsp: ENSP00000272203.2:p.Asn666Ser
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
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genotype depth: GenotypeDepth
  all individuals: 3954
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10095
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  variant carriers: 1
hgvs: p.Asn666Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

1-204214786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214786
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214786
    reference: chr 1
allele count: 5
allele frequency: 4.122895261968765e-5
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1989G>A
  hgvsp: ENST00000272203.3:c.1989G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2049G>A
  hgvsp: ENST00000414478.1:c.2049G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2133
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hgvs: p.Arg663Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

1-204214803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214803
    reference: chr 1
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1972G>A
  hgvsp: ENSP00000272203.2:p.Val658Met
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2032G>A
  hgvsp: ENSP00000402046.1:p.Val678Met
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Val658Met
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66684
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-204214804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214804
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214804
    reference: chr 1
allele count: 184
allele frequency: 1.516900247320692e-3
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2031C>T
  hgvsp: ENST00000414478.1:c.2031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1971C>T
  hgvsp: ENST00000272203.3:c.1971C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12457
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2856
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8245
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 23948
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 10231
  bin: 9.75e1
  variant carriers: 184
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp657Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 150
  allele frequency: 2.249415152060464e-3
  allele num: 66684
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

1-204214804-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214804
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214804
    reference: chr 1
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2031C>A
  hgvsp: ENSP00000402046.1:p.Asp677Glu
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1971C>A
  hgvsp: ENSP00000272203.2:p.Asp657Glu
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 132
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12457
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
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genotype depth: GenotypeDepth
  all individuals: 14883
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23948
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
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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: 2856
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp657Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16470
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-204214807-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214807
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214807
    reference: chr 1
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1968G>T
  hgvsp: ENSP00000272203.2:p.Gln656His
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2028G>T
  hgvsp: ENSP00000402046.1:p.Gln676His
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 560
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3956
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 368
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genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 5259
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 9
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hgvs: p.Gln656His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

1-204214808-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214808
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214808
    reference: chr 1
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2027A>G
  hgvsp: ENSP00000402046.1:p.Gln676Arg
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1967A>G
  hgvsp: ENSP00000272203.2:p.Gln656Arg
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
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genotype depth: GenotypeDepth
  all individuals: 3955
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 53
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 249
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4348
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln656Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66688
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

1-204214829-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214829
    reference: chr 1
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.2006A>G
  hgvsp: ENSP00000402046.1:p.Gln669Arg
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1946A>G
  hgvsp: ENSP00000272203.2:p.Gln649Arg
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln649Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.500105007350515e-5
  allele num: 66662
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-204214836-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214836
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214836
    reference: chr 1
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1999C>A
  hgvsp: ENSP00000402046.1:p.Gln667Lys
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1939C>A
  hgvsp: ENSP00000272203.2:p.Gln647Lys
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
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genotype depth: GenotypeDepth
  all individuals: 46
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 27
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  variant carriers: 0
hgvs: p.Gln647Lys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-204214838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214838
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214838
    reference: chr 1
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1997G>A
  hgvsp: ENSP00000402046.1:p.Arg666Gln
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1937G>A
  hgvsp: ENSP00000272203.2:p.Arg646Gln
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 48
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hgvs: p.Arg646Gln
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-204214839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214839
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214839
    reference: chr 1
allele count: 4
allele frequency: 3.301637612255679e-5
allele num: 121152
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1936C>T
  hgvsp: ENSP00000272203.2:p.Arg646Trp
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1996C>T
  hgvsp: ENSP00000402046.1:p.Arg666Trp
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg646Trp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-204214842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214842
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214842
    reference: chr 1
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1993A>G
  hgvsp: ENSP00000402046.1:p.Asn665Asp
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1933A>G
  hgvsp: ENSP00000272203.2:p.Asn645Asp
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn645Asp
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

1-204214852-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214852
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214852
    reference: chr 1
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1923T>C
  hgvsp: ENST00000272203.3:c.1923T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1983T>C
  hgvsp: ENST00000414478.1:c.1983T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
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  variant carriers: 0
hgvs: c.1923T>C
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-204214860-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214860
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214860
    reference: chr 1
allele count: 24
allele frequency: 1.997336884154461e-4
allele num: 120160
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1921-6C>G
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1981-6C>G
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2
hgvs: c.1921-6C>G
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8640
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

1-204214868-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214868
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214868
    reference: chr 1
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1921-14T>C
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1981-14T>C
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10376
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-204214872-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214872
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214871
    reference: chr 1
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1921-19delC
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1981-19delC
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.157943492357573e-4
  allele num: 8636
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: TG
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-204214882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214882
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214882
    reference: chr 1
allele count: 2
allele frequency: 1.664087331303147e-5
allele num: 120186
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1921-28C>T
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1981-28C>T
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.013772942346524e-5
  allele num: 66362
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

1-204214899-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204214899
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204214899
    reference: chr 1
allele count: 1
allele frequency: 8.369321415419637e-6
allele num: 119484
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1921-45A>C
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1981-45A>C
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10342
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-204216447-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216447
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216446
    reference: chr 1
allele count: 1
allele frequency: 8.639756704451203e-6
allele num: 115744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+45delA
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+45delA
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63940
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: CT
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

1-204216450-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216450
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216450
    reference: chr 1
allele count: 2
allele frequency: 1.723662437948152e-5
allele num: 116032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+43A>G
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+43A>G
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64096
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

1-204216453-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216453
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216453
    reference: chr 1
allele count: 1
allele frequency: 8.613709580167795e-6
allele num: 116094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+40A>C
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+40A>C
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9976
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4713
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18267
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 80
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genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 610
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genotype quality: GenotypeQuality
  all individuals: 5843
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 874
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

1-204216468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216468
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216468
    reference: chr 1
allele count: 80291
allele frequency: 6.702982034328457e-1
allele num: 119784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+25G>A
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+25G>A
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 540
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.75e1
  variant carriers: 850
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 175
genotype depth: GenotypeDepth
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  variant carriers: 4525
genotype depth: GenotypeDepth
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  variant carriers: 1535
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 1.75e1
  variant carriers: 4692
genotype depth: GenotypeDepth
  all individuals: 372
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  variant carriers: 359
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 3.25e1
  variant carriers: 9389
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.25e1
  variant carriers: 1388
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 295
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 8566
genotype depth: GenotypeDepth
  all individuals: 165
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  variant carriers: 162
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 10545
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 545
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  variant carriers: 532
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 3.75e1
  variant carriers: 6898
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 4.75e1
  variant carriers: 2653
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 8.75e1
  variant carriers: 1117
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 9.25e1
  variant carriers: 2018
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 3.75e1
  variant carriers: 469
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.25e1
  variant carriers: 303
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.25e1
  variant carriers: 2138
genotype quality: GenotypeQuality
  all individuals: 5700
  bin: 6.25e1
  variant carriers: 1671
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.25e1
  variant carriers: 423
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 37235
  bin: 9.75e1
  variant carriers: 37030
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 1151
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 155
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 7.75e1
  variant carriers: 2109
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1861
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 952
  bin: 4.75e1
  variant carriers: 818
genotype quality: GenotypeQuality
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  variant carriers: 873
num of homozygotes: 27065
population: East Asian
  type: Population
  allele count: 6960
  allele frequency: 8.15561284274666e-1
  allele num: 8534
  num of homozygotes: 2828
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-204216469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216469
    reference: chr 1
allele count: 24
allele frequency: 1.990941217460555e-4
allele num: 120546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+24C>T
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+24C>T
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10747
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1588
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
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genotype depth: GenotypeDepth
  all individuals: 554
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11287
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4902
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
  all individuals: 1411
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
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  variant carriers: 0
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 23
  allele frequency: 2.000347886588972e-3
  allele num: 11498
  num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

1-204216474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216474
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216474
    reference: chr 1
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+19G>A
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+19G>A
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4559
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genotype depth: GenotypeDepth
  all individuals: 273
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genotype depth: GenotypeDepth
  all individuals: 175
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genotype depth: GenotypeDepth
  all individuals: 85
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7453
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
  all individuals: 680
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 927
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1179
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genotype quality: GenotypeQuality
  all individuals: 12602
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 894
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

1-204216476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216476
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216476
    reference: chr 1
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+17G>A
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+17G>A
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 12610
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8622
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-204216477-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216477
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216477
    reference: chr 1
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+16T>C
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+16T>C
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 189
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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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: 12621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11528
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-204216477-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216477
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216476
    reference: chr 1
allele count: 11
allele frequency: 9.104452905148154e-5
allele num: 120820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+15delC
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+15delC
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13596
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12621
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 7547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4820
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2853
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.734906315058987e-4
  allele num: 11528
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: AG
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-204216478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216478
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216478
    reference: chr 1
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+15C>T
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+15C>T
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16418
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-204216479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216479
    reference: chr 1
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+14C>T
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+14C>T
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8624
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

1-204216481-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216481
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216481
    reference: chr 1
allele count: 2
allele frequency: 1.65456079683648e-5
allele num: 120878
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+12C>T
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+12C>T
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

1-204216482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216482
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216482
    reference: chr 1
allele count: 2
allele frequency: 1.654807214959457e-5
allele num: 120860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+11G>A
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+11G>A
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6540
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-204216485-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216485
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216485
    reference: chr 1
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+8A>T
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+8A>T
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: c.1920+8A>T
num of homozygotes: 0
population: South Asian
  type: Population
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  allele num: 16434
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
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site quality: ReadPosRankSum

1-204216488-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216488
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216488
    reference: chr 1
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1920+5A>C
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1980+5A>C
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1920+5A>C
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10376
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-204216497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216497
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216497
    reference: chr 1
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1976C>T
  hgvsp: ENSP00000402046.1:p.Thr659Ile
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1916C>T
  hgvsp: ENSP00000272203.2:p.Thr639Ile
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13818
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr639Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16468
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-204216500-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216500
    reference: chr 1
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1973A>G
  hgvsp: ENSP00000402046.1:p.Asp658Gly
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1913A>G
  hgvsp: ENSP00000272203.2:p.Asp638Gly
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7820
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp638Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6548
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

1-204216503-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216503
    reference: chr 1
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1970T>C
  hgvsp: ENSP00000402046.1:p.Leu657Ser
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1910T>C
  hgvsp: ENSP00000272203.2:p.Leu637Ser
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Leu637Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11548
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-204216507-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216507
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216507
    reference: chr 1
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1966A>G
  hgvsp: ENSP00000402046.1:p.Asn656Asp
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1906A>G
  hgvsp: ENSP00000272203.2:p.Asn636Asp
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn636Asp
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8640
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-204216528-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204216528
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204216528
    reference: chr 1
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000402046
  ensembl transcript: ENST00000414478
  gene symbol: PLEKHA6
  hgvsc: ENST00000414478.1:c.1945G>A
  hgvsp: ENSP00000402046.1:p.Asp649Asn
  variant of: http://identifiers.org/hgnc/17053
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143850
  ensembl protein: ENSP00000272203
  ensembl transcript: ENST00000272203
  gene symbol: PLEKHA6
  hgvsc: ENST00000272203.3:c.1885G>A
  hgvsp: ENSP00000272203.2:p.Asp629Asn
  variant of: http://identifiers.org/hgnc/17053
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13579
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12631
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21510
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp629Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11558
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.09622480840193e-5
allele num: 14092
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 1.132930513595166e-3
allele num: 5296
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 6.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 5.74786e5

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.94e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

DP
type: SiteQuality
SIO_000300: 5.50373e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

FS
type: SiteQuality
SIO_000300: 7.447e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.516e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.232142857142857e-3
allele num: 448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.62e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.69e-2

DP
type: SiteQuality
SIO_000300: 5.48567e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.524e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1722
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.902587519025875e-4
allele num: 5256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

VQSLOD
type: SiteQuality
SIO_000300: -2.149e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.23e-2

QD
type: SiteQuality
SIO_000300: 5.74e0

DP
type: SiteQuality
SIO_000300: 5.00076e5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5086
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.84129e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.51e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.162e0

QD
type: SiteQuality
SIO_000300: 1.338e1

MQ
type: SiteQuality
SIO_000300: 3.7e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2376
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 4.18868e5

VQSLOD
type: SiteQuality
SIO_000300: -1.471e0

FS
type: SiteQuality
SIO_000300: 6.107e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.77e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9032
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.12939e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.88e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

South Asian
type: Population
allele count: 1
allele frequency: 2.868617326448651e-4
allele num: 3486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.78507e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.513e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

QD
type: SiteQuality
SIO_000300: 1.036e1

FS
type: SiteQuality
SIO_000300: 3.424e0

MQRankSum
type: SiteQuality
SIO_000300: -2.205e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.149613069647463e-3
allele num: 6978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2754
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

DP
type: SiteQuality
SIO_000300: 3.4868e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.626e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 2.542e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.477104874446086e-4
allele num: 6770
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.31e0

DP
type: SiteQuality
SIO_000300: 3.40124e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.35e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

VQSLOD
type: SiteQuality
SIO_000300: -1.811e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 8.470000000000001e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532801961986511e-4
allele num: 6524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.85e-1

FS
type: SiteQuality
SIO_000300: 1.258e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.01e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

VQSLOD
type: SiteQuality
SIO_000300: -1.195e0

MQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.779999999999999e-2

DP
type: SiteQuality
SIO_000300: 3.22135e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

African
type: Population
allele count: 2
allele frequency: 9.861932938856016e-4
allele num: 2028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
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East Asian
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.286e-1

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele frequency: 0.0e0
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Other
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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VQSLOD
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QD
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DP
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MQRankSum
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
type: SiteQuality
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QD
type: SiteQuality
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European (Non-Finnish)
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allele frequency: 1.65892501658925e-4
allele num: 6028
num of homozygotes: 0

East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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South Asian
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Latino
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QD
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DP
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FS
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MQ
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

BaseQRankSum
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SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.88e-1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 324
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African
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allele frequency: 5.537098560354374e-4
allele num: 1806
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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QD
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MQ
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DP
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
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SIO_000300: -1.357e0

East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 5510
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African
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Other
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Latino
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allele num: 324
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South Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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QD
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InbreedingCoeff
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DP
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MQ
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FS
type: SiteQuality
SIO_000300: 0.0e0

South Asian
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.530596626565035e-5
allele num: 65334
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6582
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MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

ReadPosRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

QD
type: SiteQuality
SIO_000300: 1.091e1

African
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allele count: 0
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East Asian
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Other
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65420
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.612e0

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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QD
type: SiteQuality
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South Asian
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Latino
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European (Non-Finnish)
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allele frequency: 1.525320317266626e-5
allele num: 65560
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East Asian
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African
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Other
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-1

InbreedingCoeff
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DP
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VQSLOD
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MQ
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FS
type: SiteQuality
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MQRankSum
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QD
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 6.04e-1

European (Non-Finnish)
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Latino
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African
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East Asian
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Other
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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DP
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FS
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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European (Finnish)
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South Asian
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Latino
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East Asian
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allele frequency: 1.158480074142725e-4
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European (Non-Finnish)
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Other
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
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Latino
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allele num: 11520
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South Asian
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European (Finnish)
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Other
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African
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East Asian
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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QD
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MQ
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FS
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VQSLOD
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ClippingRankSum
type: SiteQuality
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South Asian
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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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MQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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South Asian
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
type: SiteQuality
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European (Finnish)
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East Asian
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African
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Latino
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South Asian
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Other
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
type: SiteQuality
SIO_000300: 8.29e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 1.896745e6

European (Non-Finnish)
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Latino
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.064e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.896745e6

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010959894014212e-5
allele num: 66424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15724
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 6.865e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.836e0

QD
type: SiteQuality
SIO_000300: 1.174e1

DP
type: SiteQuality
SIO_000300: 1.909986e6

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
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: 6
allele frequency: 9.027443428021185e-5
allele num: 66464
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.294850812035755e-4
allele num: 15886
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.711e0

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

DP
type: SiteQuality
SIO_000300: 1.914782e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.058e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.094357076780758e-4
allele num: 8648
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: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.253908692933083e-5
allele num: 15990
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 1.916201e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

FS
type: SiteQuality
SIO_000300: 1.281e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 1.179e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.217e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

DP
type: SiteQuality
SIO_000300: 1.91658e6

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 2.226e0

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.284e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006614552014432e-5
allele num: 66520
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: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 16018
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.217e0

QD
type: SiteQuality
SIO_000300: 1.284e1

FS
type: SiteQuality
SIO_000300: 2.226e0

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

DP
type: SiteQuality
SIO_000300: 1.91658e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506399086703119e-5
allele num: 66572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

DP
type: SiteQuality
SIO_000300: 1.919868e6

QD
type: SiteQuality
SIO_000300: 1.227e1

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

FS
type: SiteQuality
SIO_000300: 2.023e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.920384e6

QD
type: SiteQuality
SIO_000300: 1.135e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.503237742830712e-3
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

FS
type: SiteQuality
SIO_000300: 1.208e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.086e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.856e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.922052e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.226241569589209e-4
allele num: 16310
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

FS
type: SiteQuality
SIO_000300: 1.213e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.255e1

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.83e-1

DP
type: SiteQuality
SIO_000300: 1.923155e6

MQ
type: SiteQuality
SIO_000300: 5.916e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.924e1

FS
type: SiteQuality
SIO_000300: 4.443e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.923401e6

QD
type: SiteQuality
SIO_000300: 1.194e1

MQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

African
type: Population
allele count: 6
allele frequency: 5.76923076923077e-4
allele num: 10400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.104260774020266e-5
allele num: 16382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.337e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.24e0

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

FS
type: SiteQuality
SIO_000300: 5.51e-1

DP
type: SiteQuality
SIO_000300: 1.930131e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.924505e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.536e0

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.68e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.659e0

VQSLOD
type: SiteQuality
SIO_000300: -8.714e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.68e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 1.924626e6

QD
type: SiteQuality
SIO_000300: 1.119e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.04025294904536e-4
allele num: 16446
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.925258e6

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

FS
type: SiteQuality
SIO_000300: 3.677e0

QD
type: SiteQuality
SIO_000300: 1.078e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.441e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 4.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

DP
type: SiteQuality
SIO_000300: 1.925649e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.071645415907711e-4
allele num: 16470
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Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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African
type: Population
allele count: 6
allele frequency: 5.76923076923077e-4
allele num: 10400
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Latino
type: Population
allele count: 10
allele frequency: 8.638562543192813e-4
allele num: 11576
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.939759e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.35e0

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
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Other
type: Population
allele count: 0
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allele num: 906
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.939759e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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South Asian
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allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.734e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.926174e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.378e0

MQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.45e-2

FS
type: SiteQuality
SIO_000300: 1.078e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

Other
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: 8650
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.727e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

MQRankSum
type: SiteQuality
SIO_000300: -1.096e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

DP
type: SiteQuality
SIO_000300: 1.926245e6

VQSLOD
type: SiteQuality
SIO_000300: -3.483e-1

QD
type: SiteQuality
SIO_000300: 1.054e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 908
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.925535e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

QD
type: SiteQuality
SIO_000300: 1.109e1

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 16400
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

African
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 1.924121e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.51e0

QD
type: SiteQuality
SIO_000300: 1.028e1

VQSLOD
type: SiteQuality
SIO_000300: -4.604e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.044e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.136e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -1.912e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

DP
type: SiteQuality
SIO_000300: 1.923641e6

FS
type: SiteQuality
SIO_000300: 1.2314e1

MQRankSum
type: SiteQuality
SIO_000300: -4.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.46e-1

QD
type: SiteQuality
SIO_000300: 9.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.24e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 908
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East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.107243190423842e-5
allele num: 16374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001380635092142e-5
allele num: 66636
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.281e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.02e-1

FS
type: SiteQuality
SIO_000300: 6.842e0

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

DP
type: SiteQuality
SIO_000300: 1.923882e6

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
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MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

FS
type: SiteQuality
SIO_000300: 6.217e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

QD
type: SiteQuality
SIO_000300: 1.235e1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 1.922207e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 904
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FS
type: SiteQuality
SIO_000300: 6.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 1.916834e6

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.299e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

South Asian
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allele count: 0
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African
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allele count: 7
allele frequency: 6.827936012485369e-4
allele num: 10252
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European (Finnish)
type: Population
allele count: 2
allele frequency: 3.057169061449098e-4
allele num: 6542
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.115059221658206e-4
allele num: 66192
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DP
type: SiteQuality
SIO_000300: 1.918908e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.156e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 5.8276e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.516e0

VQSLOD
type: SiteQuality
SIO_000300: -1.796e1

MQ
type: SiteQuality
SIO_000300: 5.75e1

QD
type: SiteQuality
SIO_000300: 2.2e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

FS
type: SiteQuality
SIO_000300: 1.0014e1

DP
type: SiteQuality
SIO_000300: 1.907189e6

VQSLOD
type: SiteQuality
SIO_000300: -1.566e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.544e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
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DP
type: SiteQuality
SIO_000300: 1.904095e6

MQ
type: SiteQuality
SIO_000300: 6.02e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.652e0

FS
type: SiteQuality
SIO_000300: 2.803e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.311e0

QD
type: SiteQuality
SIO_000300: 1.607e1

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

East Asian
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.454e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.88846e6

Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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South Asian
type: Population
allele count: 1
allele frequency: 6.505334374186833e-5
allele num: 15372
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66150
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

DP
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SIO_000300: 1.847611e6

MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

Other
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allele count: 0
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Latino
type: Population
allele count: 0
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South Asian
type: Population
allele count: 1
allele frequency: 6.298815822625347e-5
allele num: 15876
num of homozygotes: 0

African
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: 8044
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VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.567e1

DP
type: SiteQuality
SIO_000300: 1.394611e6

African
type: Population
allele count: 2
allele frequency: 2.013693113169553e-4
allele num: 9932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
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DP
type: SiteQuality
SIO_000300: 1.406206e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.44e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.28693574751666e-5
allele num: 15906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
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African
type: Population
allele count: 0
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allele num: 9942
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.211e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.537e0

DP
type: SiteQuality
SIO_000300: 1.423224e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.52e1

European (Non-Finnish)
type: Population
allele count: 42705
allele frequency: 6.489727068263328e-1
allele num: 65804
num of homozygotes: 13770

Latino
type: Population
allele count: 9198
allele frequency: 8.04020979020979e-1
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Other
type: Population
allele count: 571
allele frequency: 6.387024608501118e-1
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South Asian
type: Population
allele count: 9427
allele frequency: 5.765749235474006e-1
allele num: 16350
num of homozygotes: 2719

European (Finnish)
type: Population
allele count: 4449
allele frequency: 6.884865366759517e-1
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num of homozygotes: 1530

African
type: Population
allele count: 6981
allele frequency: 6.777669902912621e-1
allele num: 10300
num of homozygotes: 2342

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 2.51e1

FS
type: SiteQuality
SIO_000300: 1.552e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 1.949482e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
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MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.972e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

QD
type: SiteQuality
SIO_000300: 2.763e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.934217e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.097560975609756e-5
allele num: 16400
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MQRankSum
type: SiteQuality
SIO_000300: -1.491e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.080000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.955e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.315e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 1.945089e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.913e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.958e0

DP
type: SiteQuality
SIO_000300: 1.950256e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.56e-1

QD
type: SiteQuality
SIO_000300: 2.591e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16418
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 1.953423e6

QD
type: SiteQuality
SIO_000300: 1.305e1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

FS
type: SiteQuality
SIO_000300: 6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
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South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.203731567860367e-4
allele num: 66460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.953423e6

FS
type: SiteQuality
SIO_000300: 6.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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allele num: 8620
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

DP
type: SiteQuality
SIO_000300: 1.955139e6

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.293e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.29e0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 1.753e0

QD
type: SiteQuality
SIO_000300: 2.578e1

DP
type: SiteQuality
SIO_000300: 1.957681e6

VQSLOD
type: SiteQuality
SIO_000300: -9.182e-1

South Asian
type: Population
allele count: 2
allele frequency: 1.217285453438831e-4
allele num: 16430
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
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African
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East Asian
type: Population
allele count: 0
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Latino
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allele frequency: 0.0e0
allele num: 11528
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European (Finnish)
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allele count: 0
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allele num: 6544
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.088e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.961987e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

Other
type: Population
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East Asian
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Latino
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South Asian
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allele frequency: 6.090875867949811e-5
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -4.203e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 7.673e0

DP
type: SiteQuality
SIO_000300: 1.964371e6

QD
type: SiteQuality
SIO_000300: 1.785e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

African
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allele count: 1
allele frequency: 9.63948332369385e-5
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East Asian
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allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.969867e6

QD
type: SiteQuality
SIO_000300: 1.618e1

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
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European (Finnish)
type: Population
allele count: 0
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South Asian
type: Population
allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

Other
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 6.455e0

QD
type: SiteQuality
SIO_000300: 2.619e1

VQSLOD
type: SiteQuality
SIO_000300: -2.064e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.699e0

DP
type: SiteQuality
SIO_000300: 1.973366e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

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

East Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 1.921e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.861e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.319e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

DP
type: SiteQuality
SIO_000300: 1.98296e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

FS
type: SiteQuality
SIO_000300: 2.727e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.59e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.985379e6

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.987137e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.369e0

QD
type: SiteQuality
SIO_000300: 1.271e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.071e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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: 6562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

DP
type: SiteQuality
SIO_000300: 1.988299e6

VQSLOD
type: SiteQuality
SIO_000300: -1.505e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

FS
type: SiteQuality
SIO_000300: 1.2036e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.658e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.393e1

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

FS
type: SiteQuality
SIO_000300: 8.497e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1