2-204009696-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009696
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009696
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 39196
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5068-38T>C
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22075
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5786
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4174
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 19230
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2808
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-204009697-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009697
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009697
    reference: chr 2
allele count: 1
allele frequency: 2.539102173471461e-5
allele num: 39384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5068-37A>G
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16056
  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
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  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: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2748
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2820
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4184
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 5.173841059602649e-5
  allele num: 19328
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

2-204009709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009709
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009709
    reference: chr 2
allele count: 2
allele frequency: 4.997251511668582e-5
allele num: 40022
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5068-25G>A
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 271
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1740
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1924
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4266
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

2-204009709-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009709
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009709
    reference: chr 2
allele count: 1
allele frequency: 2.498625755834291e-5
allele num: 40022
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5068-25G>T
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  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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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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  variant carriers: 0
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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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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  allele num: 406
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9206
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2906
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum

2-204009711-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009711
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009711
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 40600
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5068-23A>G
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24288
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  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
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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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14573
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4318
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1826
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1968
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-204009712-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009712
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009712
    reference: chr 2
allele count: 1
allele frequency: 2.45398773006135e-5
allele num: 40750
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5068-22T>C
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4954
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2701
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genotype quality: GenotypeQuality
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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: 691
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9318
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 5.018065034122842e-5
  allele num: 19928
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1954
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

2-204009713-CTTTTTTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009713
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009706
    reference: chr 2
allele count: 5
allele frequency: 1.228199459592238e-4
allele num: 40710
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5068-14_5068-8delATTTTTT
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  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: 2
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14010
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22077
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9290
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2952
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1970
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: CTTTTTTA
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-204009719-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009719
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009719
    reference: chr 2
allele count: 2
allele frequency: 4.733951903048665e-5
allele num: 42248
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5068-15T>A
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 2
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
  all individuals: 279
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genotype quality: GenotypeQuality
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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: 243
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4448
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1996
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 20664
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-204009720-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009720
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009721
    reference: chr 2
allele count: 5
allele frequency: 1.191270370723339e-4
allele num: 41972
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5068-7dupT
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 113
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27042
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 214
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 401
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 6
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  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: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 1.460280373831776e-4
  allele num: 20544
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4438
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3070
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-204009720-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009720
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009719
    reference: chr 2
allele count: 4
allele frequency: 9.530162965786715e-5
allele num: 41972
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5068-7delT
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27042
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11056
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6403
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 20544
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9468
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3070
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
reference allele: AT
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-204009724-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009724
    reference: chr 2
allele count: 1
allele frequency: 2.235236264473155e-5
allele num: 44738
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5068-10T>C
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8726
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 29092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2262
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 4.558300665511897e-5
  allele num: 21938
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2250
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-204009741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009741
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009741
    reference: chr 2
allele count: 2
allele frequency: 3.201639239290517e-5
allele num: 62468
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5075C>T
  hgvsp: ENSP00000399903.1:p.Pro1692Leu
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
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genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 6.75e1
  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
  all individuals: 381
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1795
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 18754
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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: 152
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro1692Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4220
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 6.330716637123322e-5
  allele num: 31592
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-204009743-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009743
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009743
    reference: chr 2
allele count: 1
allele frequency: 1.533366045142296e-5
allele num: 65216
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5077T>C
  hgvsp: ENSP00000399903.1:p.Tyr1693His
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19171
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
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  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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  variant carriers: 0
genotype quality: GenotypeQuality
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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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr1693His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 33164
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 2.222222222222222e-4
  allele num: 4500
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

2-204009745-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009745
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009745
    reference: chr 2
allele count: 1
allele frequency: 1.486281620641479e-5
allele num: 67282
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5079T>C
  hgvsp: ENST00000449802.1:c.5079T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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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: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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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: 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
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr1693Tyr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11986
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.912564804566902e-5
  allele num: 34334
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-204009749-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009749
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009749
    reference: chr 2
allele count: 1
allele frequency: 1.388618879662288e-5
allele num: 72014
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5083A>C
  hgvsp: ENSP00000399903.1:p.Lys1695Gln
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Lys1695Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 8.067118425298483e-5
  allele num: 12396
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 630
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

2-204009751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009751
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009751
    reference: chr 2
allele count: 1
allele frequency: 1.35080372821829e-5
allele num: 74030
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5085G>A
  hgvsp: ENST00000449802.1:c.5085G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Lys1695Lys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 7.963051441312311e-5
  allele num: 12558
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5168
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-204009757-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009757
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009757
    reference: chr 2
allele count: 1
allele frequency: 1.205749011285811e-5
allele num: 82936
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5091T>C
  hgvsp: ENST00000449802.1:c.5091T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 208
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hgvs: p.Tyr1697Tyr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6106
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5582
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

2-204009761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009761
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009761
    reference: chr 2
allele count: 2
allele frequency: 2.27847524436647e-5
allele num: 87778
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5095G>A
  hgvsp: ENSP00000399903.1:p.Ala1699Thr
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15913
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala1699Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 3.237293622531564e-4
  allele num: 6178
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8414
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-204009762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009762
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009762
    reference: chr 2
allele count: 1
allele frequency: 1.122334455667789e-5
allele num: 89100
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5096C>T
  hgvsp: ENSP00000399903.1:p.Ala1699Val
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1699Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13752
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7034
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-204009766-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009766
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009766
    reference: chr 2
allele count: 12
allele frequency: 1.276025605580485e-4
allele num: 94042
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5100T>C
  hgvsp: ENST00000449802.1:c.5100T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33434
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
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: 3.75e1
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His1700His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7754
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 756
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-204009772-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009772
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009772
    reference: chr 2
allele count: 1
allele frequency: 1.011040562947385e-5
allele num: 98908
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5106T>G
  hgvsp: ENSP00000399903.1:p.Phe1702Leu
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  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: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  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: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  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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  variant carriers: 0
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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 167
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe1702Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.885155604516663e-5
  allele num: 14524
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 53048
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

2-204009775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009775
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009775
    reference: chr 2
allele count: 3
allele frequency: 2.956189274945311e-5
allele num: 101482
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5109C>T
  hgvsp: ENST00000449802.1:c.5109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  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: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
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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
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr1703Tyr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 806
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9084
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-204009776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009776
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009776
    reference: chr 2
allele count: 12
allele frequency: 1.163602513381429e-4
allele num: 103128
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5110G>A
  hgvsp: ENSP00000399903.1:p.Asp1704Asn
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp1704Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.6061676839062e-4
  allele num: 6226
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9274
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-204009778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009778
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009778
    reference: chr 2
allele count: 1
allele frequency: 9.504799923961601e-6
allele num: 105210
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5112T>C
  hgvsp: ENST00000449802.1:c.5112T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp1704Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 56860
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.333688983728994e-4
  allele num: 7498
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-204009779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009779
    reference: chr 2
allele count: 3
allele frequency: 2.830615942028986e-5
allele num: 105984
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5113G>A
  hgvsp: ENSP00000399903.1:p.Gly1705Ser
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 42061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 215
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genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1705Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 824
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9292
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-204009786-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009786
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009786
    reference: chr 2
allele count: 5
allele frequency: 4.50824106466621e-5
allele num: 110908
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5120A>G
  hgvsp: ENSP00000399903.1:p.Glu1707Gly
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
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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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 5142
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu1707Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.912045889101338e-4
  allele num: 10460
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.963271788763152e-5
  allele num: 60444
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

2-204009791-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009791
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009791
    reference: chr 2
allele count: 9
allele frequency: 7.941830503688539e-5
allele num: 113324
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5125A>G
  hgvsp: ENSP00000399903.1:p.Met1709Val
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
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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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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41469
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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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: 6.75e1
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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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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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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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Met1709Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10808
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6460
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-204009794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009794
    reference: chr 2
allele count: 6
allele frequency: 5.250630075609073e-5
allele num: 114272
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5128G>A
  hgvsp: ENSP00000399903.1:p.Ala1710Thr
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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
  all individuals: 411
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1889
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genotype quality: GenotypeQuality
  all individuals: 400
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 636
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  variant carriers: 0
hgvs: p.Ala1710Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15610
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9582
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-204009795-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009795
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009795
    reference: chr 2
allele count: 2
allele frequency: 1.743192831991075e-5
allele num: 114732
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5129C>A
  hgvsp: ENSP00000399903.1:p.Ala1710Glu
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1885
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  variant carriers: 2
hgvs: p.Ala1710Glu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 62882
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10986
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-204009797-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009797
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009797
    reference: chr 2
allele count: 48
allele frequency: 4.15944540727903e-4
allele num: 115400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5131C>G
  hgvsp: ENSP00000399903.1:p.Leu1711Val
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
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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 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: 424
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hgvs: p.Leu1711Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8302
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9632
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

2-204009802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009802
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009802
    reference: chr 2
allele count: 1
allele frequency: 8.570595999245788e-6
allele num: 116678
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5136T>C
  hgvsp: ENST00000449802.1:c.5136T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  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 depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr1712Tyr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15868
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9678
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

2-204009815-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009815
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009816
    reference: chr 2
allele count: 1
allele frequency: 8.376752835530836e-6
allele num: 119378
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5150dupA
  hgvsp: ENSP00000399903.1:p.Tyr1717Ter
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr1717Ter
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.152331733727083e-5
  allele num: 16254
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65876
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

2-204009816-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009816
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009816
    reference: chr 2
allele count: 24
allele frequency: 2.008637139700713e-4
allele num: 119484
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5150A>T
  hgvsp: ENSP00000399903.1:p.Tyr1717Phe
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr1717Phe
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 23
  allele frequency: 3.48801941158629e-4
  allele num: 65940
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16278
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-204009817-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009817
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009817
    reference: chr 2
allele count: 4
allele frequency: 3.344537534072476e-5
allele num: 119598
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5151T>C
  hgvsp: ENST00000449802.1:c.5151T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11062
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr1717Tyr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8546
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 888
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-204009821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009821
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009821
    reference: chr 2
allele count: 1
allele frequency: 8.343484572897024e-6
allele num: 119854
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5155G>A
  hgvsp: ENSP00000399903.1:p.Ala1719Thr
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala1719Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16354
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8560
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS

2-204009828-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009828
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009828
    reference: chr 2
allele count: 1
allele frequency: 8.319052293562717e-6
allele num: 120206
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5162T>C
  hgvsp: ENSP00000399903.1:p.Met1721Thr
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1721Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9788
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-204009846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009846
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009846
    reference: chr 2
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5180G>A
  hgvsp: ENSP00000399903.1:p.Arg1727Gln
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52395
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1727Gln
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66550
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-204009851-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009851
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009851
    reference: chr 2
allele count: 3
allele frequency: 2.491280518186348e-5
allele num: 120420
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5185C>G
  hgvsp: ENSP00000399903.1:p.Arg1729Gly
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52347
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1729Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11540
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6606
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-204009851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009851
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009851
    reference: chr 2
allele count: 4
allele frequency: 3.321707357581797e-5
allele num: 120420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5185C>T
  hgvsp: ENSP00000399903.1:p.Arg1729Trp
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52347
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1729Trp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.0790273556231e-5
  allele num: 16450
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.665511265164645e-5
  allele num: 11540
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-204009852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009852
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009852
    reference: chr 2
allele count: 2
allele frequency: 1.661322745169704e-5
allele num: 120386
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5186G>A
  hgvsp: ENSP00000399903.1:p.Arg1729Gln
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg1729Gln
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11540
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 898
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-204009854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009854
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009854
    reference: chr 2
allele count: 2
allele frequency: 1.661101975050248e-5
allele num: 120402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5188G>A
  hgvsp: ENSP00000399903.1:p.Glu1730Lys
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1730Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11542
  num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 2.042483660130719e-4
  allele num: 9792
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-204009861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009861
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009861
    reference: chr 2
allele count: 1
allele frequency: 8.308960382876895e-6
allele num: 120352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5195G>A
  hgvsp: ENSP00000399903.1:p.Gly1732Glu
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
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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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly1732Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16404
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11544
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

2-204009863-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009863
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009862
    reference: chr 2
allele count: 1
allele frequency: 8.3099270388406e-6
allele num: 120338
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5200delA
  hgvsp: ENSP00000399903.1:p.Ser1734AlafsTer22
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11630
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
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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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  variant carriers: 0
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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 165
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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: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1734AlafsTer22
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11544
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16400
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: GA
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

2-204009873-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009873
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009873
    reference: chr 2
allele count: 1
allele frequency: 8.335973058135075e-6
allele num: 119962
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5207T>C
  hgvsp: ENSP00000399903.1:p.Leu1736Pro
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
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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
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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: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  bin: 6.75e1
  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
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  bin: 6.25e1
  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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genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1736Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6602
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8582
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-204009899-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009899
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009899
    reference: chr 2
allele count: 1
allele frequency: 8.616232982939859e-6
allele num: 116060
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5217+16T>G
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11378
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6542
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14762
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

2-204009903-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009903
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009903
    reference: chr 2
allele count: 1
allele frequency: 8.67694016382063e-6
allele num: 115248
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5217+20A>G
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8344
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11306
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.039284971939306e-4
  allele num: 9622
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-204009906-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009906
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009906
    reference: chr 2
allele count: 4
allele frequency: 3.495098124879856e-5
allele num: 114446
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5217+23T>C
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28514
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8443
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 524
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9294
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 33548
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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
  all individuals: 3662
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
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genotype quality: GenotypeQuality
  all individuals: 526
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genotype quality: GenotypeQuality
  all individuals: 256
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genotype quality: GenotypeQuality
  all individuals: 202
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genotype quality: GenotypeQuality
  all individuals: 1897
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genotype quality: GenotypeQuality
  all individuals: 513
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genotype quality: GenotypeQuality
  all individuals: 529
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6528
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 850
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11256
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

2-204009907-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009907
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009907
    reference: chr 2
allele count: 1
allele frequency: 8.756874146204771e-6
allele num: 114196
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5217+24C>G
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11470
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
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genotype depth: GenotypeDepth
  all individuals: 2758
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28345
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
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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: 399
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 280
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genotype quality: GenotypeQuality
  all individuals: 492
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9320
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 2.75e1
  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
  all individuals: 163
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genotype quality: GenotypeQuality
  all individuals: 1885
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 848
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.57425773747678e-5
  allele num: 63522
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9590
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

2-204009909-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009909
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009909
    reference: chr 2
allele count: 1
allele frequency: 8.755340757862296e-6
allele num: 114216
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5217+26A>G
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 1.75e1
  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 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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  variant carriers: 0
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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2614
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  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: 5.75e1
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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: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8278
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11246
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6520
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-204009910-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009910
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009911
    reference: chr 2
allele count: 1
allele frequency: 8.8017321808932e-6
allele num: 113614
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5217+32dupT
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
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genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  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 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: 3740
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14058
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.04602510460251e-4
  allele num: 9560
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63176
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-204009915-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009915
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009915
    reference: chr 2
allele count: 1
allele frequency: 8.85112409275978e-6
allele num: 112980
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5217+32T>G
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
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  allele frequency: 0.0e0
  allele num: 11182
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population: African
  type: Population
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  allele num: 9542
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population: East Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 8204
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

2-204009921-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009921
    reference: chr 2
allele count: 2
allele frequency: 1.791087548359364e-5
allele num: 111664
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5217+38T>G
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6472
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
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  allele num: 842
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9496
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

2-204009923-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009923
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009923
    reference: chr 2
allele count: 2
allele frequency: 1.814914971233598e-5
allele num: 110198
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5217+40A>G
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 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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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6846
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.808972503617945e-4
  allele num: 11056
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12926
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6442
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-204009929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009929
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009929
    reference: chr 2
allele count: 1
allele frequency: 9.165566798650828e-6
allele num: 109104
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5217+46G>A
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17100
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genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  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
  all individuals: 332
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  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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  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
  all individuals: 1882
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.641497045305319e-5
  allele num: 60920
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9392
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10966
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

2-204009930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009930
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009930
    reference: chr 2
allele count: 1
allele frequency: 9.216250092162501e-6
allele num: 108504
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5217+47G>A
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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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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  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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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 7.992327365728901e-5
  allele num: 12512
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7860
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10918
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-204009930-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204009930
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204009930
    reference: chr 2
allele count: 1
allele frequency: 9.216250092162501e-6
allele num: 108504
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5217+47G>T
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16126
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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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: 1122
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7860
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10918
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9352
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

2-204013665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013665
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013665
    reference: chr 2
allele count: 2
allele frequency: 1.805934300110162e-5
allele num: 110746
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5218-49A>G
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13724
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6468
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 62294
  num of homozygotes: 0
population: African
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  allele count: 0
  allele frequency: 0.0e0
  allele num: 9306
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-204013666-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013666
    reference: chr 2
allele count: 77
allele frequency: 6.958124740199888e-4
allele num: 110662
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5218-48C>A
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 523
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 16031
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 310
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
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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
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 427
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  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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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: 362
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8128
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 62280
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9296
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-204013666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013666
    reference: chr 2
allele count: 2
allele frequency: 1.807305127324646e-5
allele num: 110662
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5218-48C>T
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13790
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1932
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8128
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 830
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population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6472
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

2-204013668-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013668
    reference: chr 2
allele count: 1
allele frequency: 9.011282125220776e-6
allele num: 110972
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5218-46T>A
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14015
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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
  all individuals: 1575
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.602255976414792e-5
  allele num: 62412
  num of homozygotes: 0
population: South Asian
  type: Population
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  allele num: 12626
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population: Latino
  type: Population
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  allele frequency: 0.0e0
  allele num: 11166
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

2-204013674-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013674
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013674
    reference: chr 2
allele count: 1
allele frequency: 8.97021887334051e-6
allele num: 111480
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5218-40T>A
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14618
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
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  allele num: 11192
  num of homozygotes: 0
population: East Asian
  type: Population
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  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12766
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-204013682-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013682
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013682
    reference: chr 2
allele count: 2
allele frequency: 1.772829613345861e-5
allele num: 112814
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5218-32T>A
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63336
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8314
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6522
  num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

2-204013686-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013686
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013686
    reference: chr 2
allele count: 1
allele frequency: 8.782098570274352e-6
allele num: 113868
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5218-28T>G
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8400
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11288
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 844
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-204013701-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013701
    reference: chr 2
allele count: 1
allele frequency: 8.537230863797019e-6
allele num: 117134
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5218-13T>C
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8534
  num of homozygotes: 0
population: African
  type: Population
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  allele frequency: 0.0e0
  allele num: 9700
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11408
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

2-204013703-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013703
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013703
    reference: chr 2
allele count: 1
allele frequency: 8.517597356137781e-6
allele num: 117404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5218-11G>T
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 132
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 878
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population: Latino
  type: Population
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  allele num: 11422
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population: East Asian
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  allele frequency: 0.0e0
  allele num: 8540
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-204013715-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013715
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013715
    reference: chr 2
allele count: 2
allele frequency: 1.677627164139042e-5
allele num: 119216
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5219A>G
  hgvsp: ENSP00000399903.1:p.Glu1740Gly
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1740Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11476
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9770
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-204013719-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013719
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013719
    reference: chr 2
allele count: 1
allele frequency: 8.368480953337351e-6
allele num: 119496
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5223G>C
  hgvsp: ENST00000449802.1:c.5223G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu1741Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11482
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15842
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-204013723-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013723
    reference: chr 2
allele count: 1
allele frequency: 8.355754608198667e-6
allele num: 119678
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5227G>T
  hgvsp: ENSP00000399903.1:p.Val1743Leu
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val1743Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9782
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15966
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

2-204013728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013728
    reference: chr 2
allele count: 1
allele frequency: 8.34306691139663e-6
allele num: 119860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5232G>A
  hgvsp: ENST00000449802.1:c.5232G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17946
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5564
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu1744Glu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11502
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16076
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-204013739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013739
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013739
    reference: chr 2
allele count: 6
allele frequency: 4.992095848240287e-5
allele num: 120190
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5243G>A
  hgvsp: ENSP00000399903.1:p.Arg1748Gln
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  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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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  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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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg1748Gln
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 5
  allele frequency: 7.517440461871541e-5
  allele num: 66512
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6596
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-204013747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013747
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013747
    reference: chr 2
allele count: 4
allele frequency: 3.323749854585944e-5
allele num: 120346
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5251C>T
  hgvsp: ENSP00000399903.1:p.Arg1751Cys
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1751Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16370
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11526
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-204013748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013748
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013748
    reference: chr 2
allele count: 86
allele frequency: 7.143569126491012e-4
allele num: 120388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5252G>A
  hgvsp: ENSP00000399903.1:p.Arg1751His
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 18287
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32573
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 5608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 9.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg1751His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 3
  allele frequency: 3.355704697986577e-3
  allele num: 894
  num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 2.042900919305414e-4
  allele num: 9790
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-204013751-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013751
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013751
    reference: chr 2
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5255A>C
  hgvsp: ENSP00000399903.1:p.Gln1752Pro
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
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genotype depth: GenotypeDepth
  all individuals: 72
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genotype depth: GenotypeDepth
  all individuals: 667
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18380
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 26
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genotype depth: GenotypeDepth
  all individuals: 309
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5621
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48945
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 356
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genotype quality: GenotypeQuality
  all individuals: 210
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
  all individuals: 533
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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
  all individuals: 2475
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1752Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6600
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9790
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-204013763-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013763
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013763
    reference: chr 2
allele count: 27
allele frequency: 2.240217715973582e-4
allele num: 120524
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5267G>A
  hgvsp: ENSP00000399903.1:p.Arg1756Lys
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 73
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18411
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 24
  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
  all individuals: 15
  bin: 5.25e1
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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
  all individuals: 984
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genotype quality: GenotypeQuality
  all individuals: 529
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 210
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genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 5618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1756Lys
num of homozygotes: 2
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11528
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8600
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-204013776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013776
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013776
    reference: chr 2
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5280G>A
  hgvsp: ENSP00000399903.1:p.Met1760Ile
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met1760Ile
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9792
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8600
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-204013778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013778
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013778
    reference: chr 2
allele count: 5
allele frequency: 4.147794203042821e-5
allele num: 120546
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5282T>C
  hgvsp: ENSP00000399903.1:p.Leu1761Pro
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 48935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1761Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16488
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8602
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

2-204013804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013804
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013804
    reference: chr 2
allele count: 3
allele frequency: 2.488428806051859e-5
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5308G>A
  hgvsp: ENSP00000399903.1:p.Ala1770Thr
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1770Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 898
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11512
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

2-204013809-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013809
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013809
    reference: chr 2
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5313T>C
  hgvsp: ENST00000449802.1:c.5313T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr1771Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6604
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16480
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum

2-204013811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204013811
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 204013811
    reference: chr 2
allele count: 2
allele frequency: 1.659200265472042e-5
allele num: 120540
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144426
  ensembl protein: ENSP00000399903
  ensembl transcript: ENST00000449802
  gene symbol: NBEAL1
  hgvsc: ENST00000449802.1:c.5315T>C
  hgvsp: ENSP00000399903.1:p.Leu1772Pro
  variant of: http://identifiers.org/hgnc/20681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1772Pro
num of homozygotes: 0
reference allele: T

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.26e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.40214e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1876
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.75e0

DP
type: SiteQuality
SIO_000300: 6.41244e5

FS
type: SiteQuality
SIO_000300: 8.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.602e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.691e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.26e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.021763563911311e-4
allele num: 19574
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 6.73593e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

FS
type: SiteQuality
SIO_000300: 1.468e0

QD
type: SiteQuality
SIO_000300: 1.17e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.95e0

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.108817819556554e-5
allele num: 19574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 6.73593e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.468e0

QD
type: SiteQuality
SIO_000300: 1.17e1

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.27e1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: -1.08e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.79e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 6.81986e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.85412e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.015e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 4.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

MQ
type: SiteQuality
SIO_000300: 6.09e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 1.152073732718894e-3
allele num: 4340
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.128e1

MQRankSum
type: SiteQuality
SIO_000300: -2.445e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.34e-2

DP
type: SiteQuality
SIO_000300: 6.91334e5

FS
type: SiteQuality
SIO_000300: 2.014e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 8.25e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.094679514034353e-4
allele num: 9548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2074
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.86e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.434e0

FS
type: SiteQuality
SIO_000300: 9.612e0

VQSLOD
type: SiteQuality
SIO_000300: -1.373e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 7.20298e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

QD
type: SiteQuality
SIO_000300: 1.163e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2040
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.112378538234052e-4
allele num: 9468
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.24e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.30249e5

QD
type: SiteQuality
SIO_000300: 1.033e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 1.998001998001998e-3
allele num: 2002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2040
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.24e-2

QD
type: SiteQuality
SIO_000300: 1.033e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

DP
type: SiteQuality
SIO_000300: 7.30249e5

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.05e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.73e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.259e0

VQSLOD
type: SiteQuality
SIO_000300: -1.623e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.59831e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3554
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.351e0

FS
type: SiteQuality
SIO_000300: 4.26e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 5.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

DP
type: SiteQuality
SIO_000300: 9.56688e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11832
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.565e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.603e0

DP
type: SiteQuality
SIO_000300: 9.79228e5

QD
type: SiteQuality
SIO_000300: 2.233e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4664
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.070000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.442e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

DP
type: SiteQuality
SIO_000300: 9.97338e5

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 3.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5038
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

QD
type: SiteQuality
SIO_000300: 1.311e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.038823e6

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 3.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5210
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.478e0

FS
type: SiteQuality
SIO_000300: 4.499e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

QD
type: SiteQuality
SIO_000300: 1.482e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.31e-1

DP
type: SiteQuality
SIO_000300: 1.057656e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.530120481927712e-5
allele num: 13280
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 9.98e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.064e-1

DP
type: SiteQuality
SIO_000300: 1.130252e6

MQ
type: SiteQuality
SIO_000300: 5.896e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13646
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.719e0

VQSLOD
type: SiteQuality
SIO_000300: 8.25e-1

FS
type: SiteQuality
SIO_000300: 2.335e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.173838e6

QD
type: SiteQuality
SIO_000300: 1.044e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

East Asian
type: Population
allele count: 1
allele frequency: 1.595914458984998e-4
allele num: 6266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47058
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.457e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 2.915e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.184928e6

QD
type: SiteQuality
SIO_000300: 8.06e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50046
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 8.47816871555744e-4
allele num: 14154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6640
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

DP
type: SiteQuality
SIO_000300: 1.22523e6

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

FS
type: SiteQuality
SIO_000300: 1.468e0

QD
type: SiteQuality
SIO_000300: 1.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.268363e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.261e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.664077385314378e-5
allele num: 54584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.810133478616181e-5
allele num: 14684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7208
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.237e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.58e-1

QD
type: SiteQuality
SIO_000300: 1.61e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

DP
type: SiteQuality
SIO_000300: 1.29632e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.800568979797616e-4
allele num: 55538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.090750436300175e-4
allele num: 9168
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.311852e6

FS
type: SiteQuality
SIO_000300: 7.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

QD
type: SiteQuality
SIO_000300: 1.38e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

QD
type: SiteQuality
SIO_000300: 1.525e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.328407e6

FS
type: SiteQuality
SIO_000300: 3.088e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.234871222167935e-5
allele num: 57308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14966
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.336668e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.363e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

FS
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

FS
type: SiteQuality
SIO_000300: 1.262e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.383398e6

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

QD
type: SiteQuality
SIO_000300: 1.281e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.793742757821553e-4
allele num: 15534
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.407773e6

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

FS
type: SiteQuality
SIO_000300: 1.267e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.201e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.584970765839164e-5
allele num: 62598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.387e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

DP
type: SiteQuality
SIO_000300: 1.420702e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

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

South Asian
type: Population
allele count: 2
allele frequency: 1.277465508431272e-4
allele num: 15656
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 8.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.387e0

QD
type: SiteQuality
SIO_000300: 5.95e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.425957e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.488e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579928587227857e-5
allele num: 63294
num of homozygotes: 0

Latino
type: Population
allele count: 47
allele frequency: 4.243409172986638e-3
allele num: 11076
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.433815e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: 5.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.586e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 1
allele frequency: 8.933357155619081e-5
allele num: 11194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.859e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

MQ
type: SiteQuality
SIO_000300: 5.801e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.49e-1

FS
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 1.44834e6

QD
type: SiteQuality
SIO_000300: 2.023e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.46e1

DP
type: SiteQuality
SIO_000300: 1.479204e6

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

MQ
type: SiteQuality
SIO_000300: 6.069e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.481463e6

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.058953618710049e-5
allele num: 66018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 1.482021e6

FS
type: SiteQuality
SIO_000300: 1.474e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511304558094547e-5
allele num: 66168
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.135e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.993e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -5.96e-2

DP
type: SiteQuality
SIO_000300: 1.485246e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 4.731e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

FS
type: SiteQuality
SIO_000300: 1.129e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.26e-1

DP
type: SiteQuality
SIO_000300: 1.489497e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.965e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

QD
type: SiteQuality
SIO_000300: 1.646e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.854e1

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.639e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.49282e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.15e-1

QD
type: SiteQuality
SIO_000300: 1.1e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.54e-1

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: 66546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.493246390312063e-4
allele num: 8588
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

DP
type: SiteQuality
SIO_000300: 1.493032e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00543984612148e-5
allele num: 66546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.493032e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21713729308666e-4
allele num: 16432
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.03e-1

DP
type: SiteQuality
SIO_000300: 1.492805e6

MQ
type: SiteQuality
SIO_000300: 5.885e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.222e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

QD
type: SiteQuality
SIO_000300: 7.0e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.506e0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.927e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -3.68e-2

DP
type: SiteQuality
SIO_000300: 1.492636e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

QD
type: SiteQuality
SIO_000300: 9.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

FS
type: SiteQuality
SIO_000300: 4.685e0

DP
type: SiteQuality
SIO_000300: 1.491833e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.53e0

DP
type: SiteQuality
SIO_000300: 1.491839e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 7.9e0

MQ
type: SiteQuality
SIO_000300: 6.074e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507249871883761e-5
allele num: 66346
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.685999999999999e-1

FS
type: SiteQuality
SIO_000300: 8.949999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.829e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.273e1

DP
type: SiteQuality
SIO_000300: 1.486313e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.18962645729241e-4
allele num: 8406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64452
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-1

DP
type: SiteQuality
SIO_000300: 1.38963e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 3.064e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

QD
type: SiteQuality
SIO_000300: 1.572e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14520
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

DP
type: SiteQuality
SIO_000300: 1.353613e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.385e1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.31e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.288912647003333e-5
allele num: 63604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

FS
type: SiteQuality
SIO_000300: 1.6351e1

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.303397e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.371e1

VQSLOD
type: SiteQuality
SIO_000300: -7.251e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.261e0

VQSLOD
type: SiteQuality
SIO_000300: -4.322e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.38e-1

MQ
type: SiteQuality
SIO_000300: 3.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.728e0

FS
type: SiteQuality
SIO_000300: 3.768e0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

DP
type: SiteQuality
SIO_000300: 1.303424e6

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.015574575557738e-5
allele num: 14254
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.217e0

QD
type: SiteQuality
SIO_000300: 9.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
type: SiteQuality
SIO_000300: 1.290256e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.84e-1

MQ
type: SiteQuality
SIO_000300: 5.747e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.449e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.793e0

DP
type: SiteQuality
SIO_000300: 1.256701e6

QD
type: SiteQuality
SIO_000300: 7.53e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.26e-1

MQ
type: SiteQuality
SIO_000300: 3.998e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.661e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590027348470394e-5
allele num: 62892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.220706e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.504e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

QD
type: SiteQuality
SIO_000300: 1.917e1

FS
type: SiteQuality
SIO_000300: 4.771e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.212748184797276e-5
allele num: 62252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13356
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.179296e6

QD
type: SiteQuality
SIO_000300: 1.198e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 1.159695e6

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.006e0

QD
type: SiteQuality
SIO_000300: 1.266e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.152265e6

MQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

QD
type: SiteQuality
SIO_000300: 1.999e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.225e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.89e1

QD
type: SiteQuality
SIO_000300: 9.08e0

FS
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.594e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

DP
type: SiteQuality
SIO_000300: 1.151553e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.992327365728901e-5
allele num: 12512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
SIO_000300: 1.151553e6

VQSLOD
type: SiteQuality
SIO_000300: -6.594e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 9.08e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.593879502709595e-4
allele num: 12548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.189e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.582e1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

DP
type: SiteQuality
SIO_000300: 1.347824e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

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

South Asian
type: Population
allele count: 77
allele frequency: 6.161971830985915e-3
allele num: 12496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

FS
type: SiteQuality
SIO_000300: 1.404e0

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

DP
type: SiteQuality
SIO_000300: 1.354231e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605651894669236e-5
allele num: 62280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12496
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.960573476702509e-5
allele num: 11160
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.354231e6

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 1.404e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.168e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
SIO_000300: 1.365949e6

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596016343207354e-5
allele num: 62656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.245e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

QD
type: SiteQuality
SIO_000300: 1.563e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.407974e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.112824846820199e-4
allele num: 9466
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

DP
type: SiteQuality
SIO_000300: 1.459165e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.339e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

VQSLOD
type: SiteQuality
SIO_000300: -3.574e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 1.1557e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13344
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.049317943336831e-4
allele num: 9530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63930
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

FS
type: SiteQuality
SIO_000300: 1.192e0

DP
type: SiteQuality
SIO_000300: 1.481886e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.882312456985548e-5
allele num: 14530
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.53051e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.61e-1

FS
type: SiteQuality
SIO_000300: 4.244e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523972080831479e-5
allele num: 65618
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.596e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.202e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e0

FS
type: SiteQuality
SIO_000300: 3.141e0

QD
type: SiteQuality
SIO_000300: 1.435e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.893e0

DP
type: SiteQuality
SIO_000300: 1.534676e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018321209743141e-5
allele num: 66262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

DP
type: SiteQuality
SIO_000300: 1.556781e6

MQ
type: SiteQuality
SIO_000300: 5.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.92e-1

FS
type: SiteQuality
SIO_000300: 7.579e0

VQSLOD
type: SiteQuality
SIO_000300: -4.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

QD
type: SiteQuality
SIO_000300: 1.137e1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507658907248824e-5
allele num: 66328
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

QD
type: SiteQuality
SIO_000300: 1.537e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 2.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

DP
type: SiteQuality
SIO_000300: 1.5605e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

MQ
type: SiteQuality
SIO_000300: 5.793e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.433e0

QD
type: SiteQuality
SIO_000300: 1.188e1

DP
type: SiteQuality
SIO_000300: 1.562602e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -2.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

East Asian
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.06e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.118e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.171e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.043e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

DP
type: SiteQuality
SIO_000300: 1.565379e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.143260842855388e-5
allele num: 16278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

FS
type: SiteQuality
SIO_000300: 1.179e0

DP
type: SiteQuality
SIO_000300: 1.570789e6

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 1.396e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.008532115604158e-5
allele num: 66572
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

QD
type: SiteQuality
SIO_000300: 1.309e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

DP
type: SiteQuality
SIO_000300: 1.573109e6

South Asian
type: Population
allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.060606060606061e-4
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 8.110056470022829e-4
allele num: 66584
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.648446989415235e-3
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.489183531053733e-4
allele num: 8598
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.207e1

VQSLOD
type: SiteQuality
SIO_000300: 5.59e0

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

DP
type: SiteQuality
SIO_000300: 1.577703e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

DP
type: SiteQuality
SIO_000300: 1.573569e6

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

FS
type: SiteQuality
SIO_000300: 2.164e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.119e0

MQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.386e1

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

South Asian
type: Population
allele count: 27
allele frequency: 1.638946218283356e-3
allele num: 16474
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.93e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.575676e6

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

FS
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e0

QD
type: SiteQuality
SIO_000300: 1.399e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -1.875e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.482e0

MQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.191e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

FS
type: SiteQuality
SIO_000300: 1.4069e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.575415e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.058770069675856e-4
allele num: 6602
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.64e1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

DP
type: SiteQuality
SIO_000300: 1.575753e6

FS
type: SiteQuality
SIO_000300: 1.103e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499910001799964e-5
allele num: 66668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.908e0

DP
type: SiteQuality
SIO_000300: 1.576419e6

QD
type: SiteQuality
SIO_000300: 1.304e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 3.647e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.141e0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.022e1

VQSLOD
type: SiteQuality
SIO_000300: -2.438e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.576435e6

MQ
type: SiteQuality
SIO_000300: 5.914e1

FS
type: SiteQuality
SIO_000300: 1.079e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.5e-1