9-123421776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421776
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421776
    reference: chr 9
allele count: 1
allele frequency: 8.548908304409527e-6
allele num: 116974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.790C>T
  hgvsp: ENSP00000392666.1:p.Arg264Trp
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.679C>T
  hgvsp: ENSP00000363040.3:p.Arg227Trp
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47575
  bin: 6.25e1
  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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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg227Trp
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8516
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

9-123421780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421780
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421780
    reference: chr 9
allele count: 1
allele frequency: 8.573094201159083e-6
allele num: 116644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.786G>A
  hgvsp: ENST00000426959.1:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.675G>A
  hgvsp: ENST00000373930.3:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 490
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 106
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genotype quality: GenotypeQuality
  all individuals: 3263
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 574
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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: 4228
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genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu225Glu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 856
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

9-123421792-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421792
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421792
    reference: chr 9
allele count: 2
allele frequency: 1.737891242766028e-5
allele num: 115082
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.663A>G
  hgvsp: ENST00000373930.3:c.663A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.774A>G
  hgvsp: ENST00000426959.1:c.774A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 611
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  variant carriers: 0
hgvs: p.Thr221Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15468
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

9-123421799-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421799
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421799
    reference: chr 9
allele count: 1
allele frequency: 8.798944126704796e-6
allele num: 113650
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.656A>G
  hgvsp: ENSP00000363040.3:p.Gln219Arg
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.767A>G
  hgvsp: ENSP00000392666.1:p.Gln256Arg
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14572
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 663
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln219Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.578233010321644e-5
  allele num: 63362
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

9-123421800-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421800
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421800
    reference: chr 9
allele count: 1
allele frequency: 8.820520057862612e-6
allele num: 113372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.655C>G
  hgvsp: ENSP00000363040.3:p.Gln219Glu
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.766C>G
  hgvsp: ENSP00000392666.1:p.Gln256Glu
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln219Glu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10654
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

9-123421803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421803
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421803
    reference: chr 9
allele count: 3
allele frequency: 2.660470725953779e-5
allele num: 112762
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.652A>G
  hgvsp: ENSP00000363040.3:p.Asn218Asp
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.763A>G
  hgvsp: ENSP00000392666.1:p.Asn255Asp
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1951
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  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
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43629
  bin: 6.25e1
  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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genotype quality: GenotypeQuality
  all individuals: 486
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genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn218Asp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10570
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

9-123421804-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421804
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421804
    reference: chr 9
allele count: 1
allele frequency: 8.888098835659053e-6
allele num: 112510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.762C>G
  hgvsp: ENSP00000392666.1:p.Cys254Trp
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.651C>G
  hgvsp: ENSP00000363040.3:p.Cys217Trp
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  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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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3746
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys217Trp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10524
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

9-123421806-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421806
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421806
    reference: chr 9
allele count: 19
allele frequency: 1.698855507868383e-4
allele num: 111840
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.649T>C
  hgvsp: ENSP00000363040.3:p.Cys217Arg
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.760T>C
  hgvsp: ENSP00000392666.1:p.Cys254Arg
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33264
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.75e1
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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
  all individuals: 3637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys217Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8756
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

9-123421815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421815
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421815
    reference: chr 9
allele count: 4
allele frequency: 3.680462266060617e-5
allele num: 108682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.751G>A
  hgvsp: ENSP00000392666.1:p.Val251Met
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.640G>A
  hgvsp: ENSP00000363040.3:p.Val214Met
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 39468
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val214Met
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14744
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

9-123421822-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421822
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421822
    reference: chr 9
allele count: 1
allele frequency: 9.491448205167145e-6
allele num: 105358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.633C>A
  hgvsp: ENSP00000363040.3:p.Ser211Arg
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.744C>A
  hgvsp: ENSP00000392666.1:p.Ser248Arg
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28018
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 518
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35845
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genotype quality: GenotypeQuality
  all individuals: 226
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
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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
  all individuals: 3147
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genotype quality: GenotypeQuality
  all individuals: 12690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
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genotype quality: GenotypeQuality
  all individuals: 882
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 90
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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: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser211Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5922
  num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-123421832-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421832
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421832
    reference: chr 9
allele count: 1
allele frequency: 1.001021041462292e-5
allele num: 99898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.734T>C
  hgvsp: ENSP00000392666.1:p.Val245Ala
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.623T>C
  hgvsp: ENSP00000363040.3:p.Val208Ala
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10411
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23721
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
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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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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1852
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 393
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2725
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val208Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5652
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-123421833-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421833
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421833
    reference: chr 9
allele count: 1
allele frequency: 1.007942587590211e-5
allele num: 99212
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.622G>T
  hgvsp: ENSP00000363040.3:p.Val208Leu
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.733G>T
  hgvsp: ENSP00000392666.1:p.Val245Leu
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11105
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 132
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genotype quality: GenotypeQuality
  all individuals: 2024
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 548
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 750
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val208Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13904
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

9-123421842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421842
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421842
    reference: chr 9
allele count: 4
allele frequency: 4.221368567689645e-5
allele num: 94756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.724A>G
  hgvsp: ENSP00000392666.1:p.Asn242Asp
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.613A>G
  hgvsp: ENSP00000363040.3:p.Asn205Asp
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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genotype depth: GenotypeDepth
  all individuals: 2881
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn205Asp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7718
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

9-123421846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421846
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421846
    reference: chr 9
allele count: 2
allele frequency: 2.150907683042244e-5
allele num: 92984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.720A>G
  hgvsp: ENST00000426959.1:c.720A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.609A>G
  hgvsp: ENST00000373930.3:c.609A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 23437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 3.75e1
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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: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val203Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5322
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

9-123421861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421861
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421861
    reference: chr 9
allele count: 12
allele frequency: 1.478925314271629e-4
allele num: 81140
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.602-8C>T
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.713-8C>T
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21231
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 6.75e1
  variant carriers: 0
hgvs: c.602-8C>T
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6790
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

9-123421862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421862
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421862
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 81034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.713-9C>T
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.602-9C>T
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16780
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2889
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4726
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

9-123421869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421869
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421869
    reference: chr 9
allele count: 9
allele frequency: 1.144048405959221e-4
allele num: 78668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.713-16C>T
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.602-16C>T
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 3
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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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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 quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 9
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 877
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6616
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-123421871-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421871
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421871
    reference: chr 9
allele count: 9
allele frequency: 1.158748551564311e-4
allele num: 77670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.713-18T>C
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.602-18T>C
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21735
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 9
  allele frequency: 1.95907705703091e-3
  allele num: 4594
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

9-123421873-A-AGAAGGAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421873
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421881
    reference: chr 9
allele count: 1
allele frequency: 1.312542657636373e-5
allele num: 76188
alternate allele: AGAAGGAAG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21875
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 586
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-123421879-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421879
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421879
    reference: chr 9
allele count: 6995
allele frequency: 1.001632395898963e-1
allele num: 69836
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.602-26T>C
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.713-26T>C
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 1.75e1
  variant carriers: 1846
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.75e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.25e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 18655
  bin: 7.5e0
  variant carriers: 1355
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 21470
  bin: 1.25e1
  variant carriers: 2675
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 2.5e0
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 2.25e1
  variant carriers: 856
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 2.75e1
  variant carriers: 530
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 27329
  bin: 2.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 7.5e0
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.25e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.75e1
  variant carriers: 221
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 2.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 3.25e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 6.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 115
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.75e1
  variant carriers: 149
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 1.25e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.25e1
  variant carriers: 170
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 6.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 216
genotype quality: GenotypeQuality
  all individuals: 6717
  bin: 9.75e1
  variant carriers: 6324
num of homozygotes: 320
population: European (Non-Finnish)
  type: Population
  allele count: 3086
  allele frequency: 8.11336628457251e-2
  allele num: 38036
  num of homozygotes: 89
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

9-123421901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123421901
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123421901
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 43692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.713-48G>A
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.602-48G>A
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26847
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10116
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7285
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 13426
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 353
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genotype quality: GenotypeQuality
  all individuals: 466
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genotype quality: GenotypeQuality
  all individuals: 12360
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 796
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3321
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genotype quality: GenotypeQuality
  all individuals: 97
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2294
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/7-150734215-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734215
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734215
    reference: chr 7
allele count: 1
allele frequency: 8.116883116883117e-5
allele num: 12320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+264C>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1218-113C>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+479C>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+479C>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+479C>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.1218-41C>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+479C>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+479C>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+479C>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.415-156C>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+479C>A
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

7-150734218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734218
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734218
    reference: chr 7
allele count: 1
allele frequency: 8.116883116883117e-5
allele num: 12320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.1218-38C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+482C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+482C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+482C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+482C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1218-110C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.415-153C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+267C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+482C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+482C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+482C>T
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

7-150734259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734259
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734259
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 12346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+523C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+308C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.415-112C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.1221C>T
  hgvsp: ENST00000477719.1:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+523C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+523C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+523C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1218-69C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+523C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+523C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+523C>T
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp407Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-150734265-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734265
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734266
    reference: chr 7
allele count: 1
allele frequency: 8.099789405475457e-5
allele num: 12346
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1218-62dupT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.415-105dupT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+530dupT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+315dupT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+530dupT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+530dupT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+530dupT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.1228dupT
  hgvsp: ENSP00000419891.1:p.Ter410Leu
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+530dupT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+530dupT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+530dupT
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter410Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

7-150734282-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734282
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734282
    reference: chr 7
allele count: 1
allele frequency: 8.093234056328909e-5
allele num: 12356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1218-46A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+546A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.415-89A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+331A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+546A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+546A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+546A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+546A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.*14A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+546A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+546A>G
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-150734287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734287
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734287
    reference: chr 7
allele count: 4
allele frequency: 3.236769703835572e-4
allele num: 12358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+551C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.415-84C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+551C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+551C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+551C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+336C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+551C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1218-41C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+551C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+551C>T
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

7-150734300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734300
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734300
    reference: chr 7
allele count: 1
allele frequency: 8.087997411840829e-5
allele num: 12364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1218-28G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+564G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+564G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.415-71G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+349G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+564G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.*32G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+564G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+564G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+564G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+564G>A
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

9-123452158-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123452158
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123452158
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 62758
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.601+23878G>C
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.712+46G>C
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23296
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5000
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4879
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 496
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

9-123452161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123452161
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123452161
    reference: chr 9
allele count: 1
allele frequency: 1.580727767063956e-5
allele num: 63262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.712+43T>C
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.601+23875T>C
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4882
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6268
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3228
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-123452162-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123452162
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123452162
    reference: chr 9
allele count: 1
allele frequency: 1.578233010321644e-5
allele num: 63362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000392666
  ensembl transcript: ENST00000426959
  gene symbol: MEGF9
  hgvsc: ENST00000426959.1:c.712+42A>G
  variant of: http://identifiers.org/hgnc/3234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106780
  ensembl protein: ENSP00000363040
  ensembl transcript: ENST00000373930
  gene symbol: MEGF9
  hgvsc: ENST00000373930.3:c.601+23874A>G
  variant of: http://identifiers.org/hgnc/3234
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6022
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

7-150734309-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734309
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734309
    reference: chr 7
allele count: 1
allele frequency: 8.084074373484237e-5
allele num: 12370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1218-19C>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+573C>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+573C>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+573C>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.*41C>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+573C>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+573C>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+573C>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+573C>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.415-62C>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+358C>G
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

7-150734352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734352
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734352
    reference: chr 7
allele count: 4
allele frequency: 3.231539828728389e-4
allele num: 12378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+616G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.*84G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+401G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+616G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+616G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1242G>A
  hgvsp: ENST00000477092.1:c.1242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+616G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+616G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+616G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.415-19G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+616G>A
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro414Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

7-150734358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734358
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734358
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 12382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+407C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+622C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1248C>T
  hgvsp: ENST00000477092.1:c.1248C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+622C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+622C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+622C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+622C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.415-13C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+622C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+622C>T
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser416Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-150734364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734364
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734364
    reference: chr 7
allele count: 1
allele frequency: 8.069722401549386e-5
allele num: 12392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.*96G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1254G>A
  hgvsp: ENST00000477092.1:c.1254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+628G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+628G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+628G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+413G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.415-7G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+628G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+628G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+628G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+628G>A
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.415-7G>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

7-150734364-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734364
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734364
    reference: chr 7
allele count: 388
allele frequency: 3.131052291801162e-2
allele num: 12392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+628G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+628G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+628G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+413G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.*96G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.415-7G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+628G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+628G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1254G>T
  hgvsp: ENST00000477092.1:c.1254G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+628G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+628G>T
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 2.5e0
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: c.415-7G>T
num of homozygotes: 12
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

7-150734380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734380
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734380
    reference: chr 7
allele count: 4507
allele frequency: 3.630578379249235e-1
allele num: 12414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+644T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.*3T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+644T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.*112T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+644T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+644T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+429T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+644T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+644T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+644T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.1270T>C
  hgvsp: ENSP00000419558.1:p.Phe424Leu
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 258
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.5e0
  variant carriers: 242
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.5e0
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 297
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 9.75e1
  variant carriers: 1415
genotype quality: GenotypeQuality
hgvs: p.Phe424Leu
num of homozygotes: 847
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

7-150734419-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734419
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734419
    reference: chr 7
allele count: 1
allele frequency: 8.132726089785297e-5
allele num: 12296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+683G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.*151G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+683G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+683G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.*42G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+468G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+683G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+683G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+683G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.*13G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+683G>T
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

7-150734422-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150734422
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150734422
    reference: chr 7
allele count: 6
allele frequency: 4.880429477794046e-4
allele num: 12294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420162
  ensembl transcript: ENST00000491920
  gene symbol: ABCB8
  hgvsc: ENST00000491920.1:c.*45G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419891
  ensembl transcript: ENST00000477719
  gene symbol: ABCB8
  hgvsc: ENST00000477719.1:c.*154G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1217+686G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1217+686G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1063+686G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1332+471G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1268+686G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*784+686G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.953+686G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419558
  ensembl transcript: ENST00000477092
  gene symbol: ABCB8
  hgvsc: ENST00000477092.1:c.*16G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*860+686G>T
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-150737308-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737308
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737305
    reference: chr 7
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1218-42_1218-40delCTT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*861-42_*861-40delCTT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1333-42_1333-40delCTT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1218-42_1218-40delCTT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.954-42_954-40delCTT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1269-42_1269-40delCTT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2539_2541delCTT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-272_*1064-270delCTT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*785-42_*785-40delCTT
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: CTCT
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

7-150737316-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737316
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737316
    reference: chr 7
allele count: 20
allele frequency: 1.65812731101494e-4
allele num: 120618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*861-39G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1269-39G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1333-39G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-269G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1218-39G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.954-39G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2542G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1218-39G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*785-39G>T
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

7-150737317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737317
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737317
    reference: chr 7
allele count: 3
allele frequency: 2.486902314477087e-5
allele num: 120632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1269-38T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2543T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.954-38T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*861-38T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1218-38T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*785-38T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1218-38T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1333-38T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-268T>C
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

7-150737321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737321
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737321
    reference: chr 7
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1269-34C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-264C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.954-34C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1218-34C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1333-34C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*861-34C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2547C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1218-34C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*785-34C>T
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

7-150737322-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737322
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737322
    reference: chr 7
allele count: 2
allele frequency: 1.657824933687002e-5
allele num: 120640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1218-33A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2548A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*785-33A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1218-33A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1333-33A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.954-33A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*861-33A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-263A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1269-33A>G
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45069
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

7-150737325-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737325
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737325
    reference: chr 7
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1269-30T>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*861-30T>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1218-30T>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2551T>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1333-30T>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-260T>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.954-30T>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*785-30T>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1218-30T>G
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

7-150737327-TTCCACCCCTCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737327
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737315
    reference: chr 7
allele count: 8
allele frequency: 6.628991896057407e-5
allele num: 120682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: TTCCACCCCTCTC
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

7-150737328-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737328
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737327
    reference: chr 7
allele count: 2
allele frequency: 1.657577616071872e-5
allele num: 120658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1218-25delC
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-255delC
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1333-25delC
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2556delC
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*785-25delC
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*861-25delC
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.954-25delC
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1269-25delC
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1218-25delC
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: TC
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

7-150737333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737333
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737333
    reference: chr 7
allele count: 4
allele frequency: 3.314276244925015e-5
allele num: 120690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-252C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*861-22C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.954-22C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*785-22C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1269-22C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1218-22C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2559C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1218-22C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1333-22C>T
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

7-150737337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737337
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737337
    reference: chr 7
allele count: 2
allele frequency: 1.656753756689143e-5
allele num: 120718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-248C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*861-18C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1218-18C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1218-18C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2563C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1333-18C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*785-18C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1269-18C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.954-18C>T
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

7-150737353-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737353
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737353
    reference: chr 7
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*861-2A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1333-2A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1218-2A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1269-2A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2579A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1218-2A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*785-2A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-232A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.954-2A>G
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1218-2A>G
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

7-150737355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737355
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737355
    reference: chr 7
allele count: 22
allele frequency: 1.820890581029631e-4
allele num: 120820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2581G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1269G>A
  hgvsp: ENST00000297504.6:c.1269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*861G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-230G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.954G>A
  hgvsp: ENST00000542328.1:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*785G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1218G>A
  hgvsp: ENST00000358849.4:c.1218G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1333G>A
  hgvsp: ENSP00000348353.4:p.Val445Ile
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1218G>A
  hgvsp: ENST00000498578.1:c.1218G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val445Ile
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

7-150737359-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737359
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737359
    reference: chr 7
allele count: 7
allele frequency: 5.794030493154767e-5
allele num: 120814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1222A>G
  hgvsp: ENSP00000418271.1:p.Met408Val
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1337A>G
  hgvsp: ENSP00000348353.4:p.His446Arg
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1273A>G
  hgvsp: ENSP00000297504.6:p.Met425Val
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*865A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.958A>G
  hgvsp: ENSP00000438776.1:p.Met320Val
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*789A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2585A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1222A>G
  hgvsp: ENSP00000351717.4:p.Met408Val
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-226A>G
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met408Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-150737364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737364
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737364
    reference: chr 7
allele count: 1
allele frequency: 8.276227364518158e-6
allele num: 120828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.963C>T
  hgvsp: ENST00000542328.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*794C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1342C>T
  hgvsp: ENSP00000348353.4:p.Gln448Ter
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*870C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1227C>T
  hgvsp: ENST00000498578.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1278C>T
  hgvsp: ENST00000297504.6:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1227C>T
  hgvsp: ENST00000358849.4:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2590C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-221C>T
  variant of: http://identifiers.org/hgnc/49
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln448Ter
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-150737367-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737367
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737365
    reference: chr 7
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1235_1236delCT
  hgvsp: ENSP00000418271.1:p.Ser412CysfsTer18
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*802_*803delCT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.971_972delCT
  hgvsp: ENSP00000438776.1:p.Ser324CysfsTer18
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*878_*879delCT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1235_1236delCT
  hgvsp: ENSP00000351717.4:p.Ser412CysfsTer18
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2598_2599delCT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1286_1287delCT
  hgvsp: ENSP00000297504.6:p.Ser429CysfsTer18
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1350_1351delCT
  hgvsp: ENSP00000348353.4:p.Cys451SerfsTer10
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-213_*1064-212delCT
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser412CysfsTer18
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: CCT
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

7-150737382-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737382
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737382
    reference: chr 7
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1296T>G
  hgvsp: ENSP00000297504.6:p.Phe432Leu
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*888T>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1360T>G
  hgvsp: ENSP00000348353.4:p.Trp454Gly
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1245T>G
  hgvsp: ENSP00000418271.1:p.Phe415Leu
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.981T>G
  hgvsp: ENSP00000438776.1:p.Phe327Leu
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2608T>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*812T>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-203T>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1245T>G
  hgvsp: ENSP00000351717.4:p.Phe415Leu
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe415Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

7-150737387-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737387
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737387
    reference: chr 7
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1250A>G
  hgvsp: ENSP00000351717.4:p.Gln417Arg
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.986A>G
  hgvsp: ENSP00000438776.1:p.Gln329Arg
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1301A>G
  hgvsp: ENSP00000297504.6:p.Gln434Arg
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1250A>G
  hgvsp: ENSP00000418271.1:p.Gln417Arg
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*893A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1365A>G
  hgvsp: ENST00000356058.4:c.1365A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2613A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-198A>G
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*817A>G
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln417Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

7-150737387-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737387
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737386
    reference: chr 7
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1251+1delG
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1251+1delG
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.987+1delG
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1366+1delG
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*818+1delG
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1302+1delG
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-196delG
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*894+1delG
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2614+1delG
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: AG
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

7-150737398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737398
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737398
    reference: chr 7
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1251+10C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1251+10C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1366+10C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-187C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2614+10C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*894+10C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*818+10C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1302+10C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.987+10C>T
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

7-150737404-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737404
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737404
    reference: chr 7
allele count: 3
allele frequency: 2.482539472377611e-5
allele num: 120844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2614+16G>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1366+16G>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1251+16G>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1302+16G>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*818+16G>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*894+16G>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.987+16G>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-181G>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1251+16G>C
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

7-150737419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737419
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737419
    reference: chr 7
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1251+31G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2614+31G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1251+31G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*818+31G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-166G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.987+31G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1366+31G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1302+31G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*894+31G>A
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

7-150737419-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737419
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737419
    reference: chr 7
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1302+31G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2614+31G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1251+31G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.987+31G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1251+31G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*818+31G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*894+31G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-166G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1366+31G>T
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45059
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

7-150737426-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737426
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737426
    reference: chr 7
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1251+38G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1302+38G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*818+38G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1251+38G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*894+38G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2614+38G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-159G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1366+38G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.987+38G>T
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-150737432-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737432
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737432
    reference: chr 7
allele count: 52
allele frequency: 4.308773325378675e-4
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-153G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2614+44G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1302+44G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*894+44G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.987+44G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*818+44G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1251+44G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1366+44G>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1251+44G>T
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

7-150737434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737434
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737434
    reference: chr 7
allele count: 8
allele frequency: 6.633059166887768e-5
allele num: 120608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.987+46C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1251+46C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2614+46C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1302+46C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-151C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*894+46C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1366+46C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1251+46C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*818+46C>T
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

7-150737435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737435
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737435
    reference: chr 7
allele count: 2
allele frequency: 1.657934876318058e-5
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1302+47G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2614+47G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1251+47G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.987+47G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*894+47G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1366+47G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-150G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1251+47G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*818+47G>A
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45065
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

7-150737436-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737436
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737436
    reference: chr 7
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1302+48T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*894+48T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1251+48T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-149T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1251+48T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2614+48T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*818+48T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.987+48T>C
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1366+48T>C
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

7-150737537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737537
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737537
    reference: chr 7
allele count: 1
allele frequency: 8.548762139242238e-6
allele num: 116976
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1252-48G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*895-48G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1303-48G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2615-48G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*819-48G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1252-48G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.988-48G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1367-48G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-48G>A
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31982
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

7-150737546-ACTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737546
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737543
    reference: chr 7
allele count: 1
allele frequency: 8.539417953272305e-6
allele num: 117104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-36_*1064-34delCCT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.988-36_988-34delCCT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1303-36_1303-34delCCT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1252-36_1252-34delCCT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1252-36_1252-34delCCT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2615-36_2615-34delCCT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*895-36_*895-34delCCT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*819-36_*819-34delCCT
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1367-36_1367-34delCCT
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: ACTC
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

7-150737547-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737547
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737547
    reference: chr 7
allele count: 1524
allele frequency: 1.301562900333077e-2
allele num: 117090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1252-38C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.988-38C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2615-38C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1303-38C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-38C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1252-38C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*819-38C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1367-38C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*895-38C>T
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.25e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 222
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 4.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 7.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 6.75e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 4.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 3.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 5.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 5.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 6.25e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 32128
  bin: 9.75e1
  variant carriers: 1509
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 2
num of homozygotes: 11
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-150737554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737554
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737554
    reference: chr 7
allele count: 1
allele frequency: 8.522388314101144e-6
allele num: 117338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1303-31C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*895-31C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1252-31C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2615-31C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1367-31C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1252-31C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-31C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.988-31C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*819-31C>T
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

7-150737558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737558
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737558
    reference: chr 7
allele count: 207
allele frequency: 1.761942051683634e-3
allele num: 117484
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1252-27C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-27C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2615-27C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1303-27C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.988-27C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*819-27C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1367-27C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*895-27C>T
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1252-27C>T
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31553
  bin: 9.75e1
  variant carriers: 204
num of homozygotes: 2
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

7-150737562-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150737562
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 150737562
    reference: chr 7
allele count: 3
allele frequency: 2.548290097344682e-5
allele num: 117726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000348353
  ensembl transcript: ENST00000356058
  gene symbol: ABCB8
  hgvsc: ENST00000356058.4:c.1367-23G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000419014
  ensembl transcript: ENST00000482309
  gene symbol: ABCB8
  hgvsc: ENST00000482309.1:c.*819-23G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000438776
  ensembl transcript: ENST00000542328
  gene symbol: ABCB8
  hgvsc: ENST00000542328.1:c.988-23G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000297504
  ensembl transcript: ENST00000297504
  gene symbol: ABCB8
  hgvsc: ENST00000297504.6:c.1303-23G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000418271
  ensembl transcript: ENST00000498578
  gene symbol: ABCB8
  hgvsc: ENST00000498578.1:c.1252-23G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420631
  ensembl transcript: ENST00000466514
  gene symbol: ABCB8
  hgvsc: ENST00000466514.1:c.*895-23G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000420216
  ensembl transcript: ENST00000470645
  gene symbol: ABCB8
  hgvsc: ENST00000470645.1:c.*1064-23G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl transcript: ENST00000482899
  gene symbol: ABCB8
  hgvsc: ENST00000482899.1:n.2615-23G>A
  variant of: http://identifiers.org/hgnc/49
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197150
  ensembl protein: ENSP00000351717
  ensembl transcript: ENST00000358849
  gene symbol: ABCB8
  hgvsc: ENST00000358849.4:c.1252-23G>A
  variant of: http://identifiers.org/hgnc/49
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535673700052213e-5
allele num: 65118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15782
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 1.39361e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.493e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 9.66e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539693293096015e-5
allele num: 64948
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

FS
type: SiteQuality
SIO_000300: 4.197e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.125e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.38855e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.914e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.112099644128114e-4
allele num: 8992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559429872438636e-5
allele num: 64126
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.370375e6

MQRankSum
type: SiteQuality
SIO_000300: -1.276e0

VQSLOD
type: SiteQuality
SIO_000300: -5.706e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10688
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: 6378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15254
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

DP
type: SiteQuality
SIO_000300: 1.350779e6

FS
type: SiteQuality
SIO_000300: 7.782e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581878005568211e-5
allele num: 63216
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 6.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

DP
type: SiteQuality
SIO_000300: 1.348122e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
type: SiteQuality
SIO_000300: 3.477e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

VQSLOD
type: SiteQuality
SIO_000300: -1.846e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8820
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.670173721556154e-4
allele num: 8174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.65e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

DP
type: SiteQuality
SIO_000300: 1.338842e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.692e0

MQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

South Asian
type: Population
allele count: 1
allele frequency: 6.60763843002511e-5
allele num: 15134
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
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MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.625e0

DP
type: SiteQuality
SIO_000300: 1.336439e6

VQSLOD
type: SiteQuality
SIO_000300: -8.54e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.49e-1

QD
type: SiteQuality
SIO_000300: 9.93e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15050
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Other
type: Population
allele count: 1
allele frequency: 1.213592233009709e-3
allele num: 824
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European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.726281352235551e-4
allele num: 62356
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.590330788804071e-4
allele num: 6288
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.294e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

FS
type: SiteQuality
SIO_000300: 1.965e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 1.325801e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.606765327695561e-5
allele num: 60544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.358e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

FS
type: SiteQuality
SIO_000300: 6.591e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.08e0

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

DP
type: SiteQuality
SIO_000300: 1.280644e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7600
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14496
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.706135262403603e-5
allele num: 58612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.230197e6

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.243e0

VQSLOD
type: SiteQuality
SIO_000300: -3.026e0

QD
type: SiteQuality
SIO_000300: 2.079e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.579e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13988
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.800439307190955e-5
allele num: 55542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.093e1

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

FS
type: SiteQuality
SIO_000300: 2.473e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 1.144466e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55148
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.417233560090703e-4
allele num: 7056
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8758
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QD
type: SiteQuality
SIO_000300: 5.63e0

DP
type: SiteQuality
SIO_000300: 1.13532e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.197e0

VQSLOD
type: SiteQuality
SIO_000300: -1.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.36e-1

MQ
type: SiteQuality
SIO_000300: 5.516e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5396
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.614116572124719e-5
allele num: 52534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
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allele num: 8132
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.237e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.063079e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

FS
type: SiteQuality
SIO_000300: 6.863e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.521432173474534e-4
allele num: 7932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

QD
type: SiteQuality
SIO_000300: 1.42e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

DP
type: SiteQuality
SIO_000300: 1.036438e6

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

FS
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

Other
type: Population
allele count: 1
allele frequency: 1.597444089456869e-3
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.240344116856349e-5
allele num: 44636
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 6548
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 8.134049129656743e-4
allele num: 12294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 5518
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 8.58122e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.462e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12288
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.829e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 5.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

DP
type: SiteQuality
SIO_000300: 8.56538e5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5302
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European (Non-Finnish)
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allele count: 9
allele frequency: 2.082562014068863e-4
allele num: 43216
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 12016
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.197e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

DP
type: SiteQuality
SIO_000300: 8.28248e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11890
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42616
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
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QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 2.232e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

DP
type: SiteQuality
SIO_000300: 8.11307e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.510638297872341e-5
allele num: 11750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41730
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

MQ
type: SiteQuality
SIO_000300: 4.969e1

MQRankSum
type: SiteQuality
SIO_000300: -2.45e0

DP
type: SiteQuality
SIO_000300: 7.94765e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

Latino
type: Population
allele count: 682
allele frequency: 1.318638824439289e-1
allele num: 5172
num of homozygotes: 39

South Asian
type: Population
allele count: 1346
allele frequency: 1.195806680881308e-1
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num of homozygotes: 81

East Asian
type: Population
allele count: 512
allele frequency: 1.136262760763427e-1
allele num: 4506
num of homozygotes: 33

European (Finnish)
type: Population
allele count: 201
allele frequency: 4.685314685314685e-2
allele num: 4290
num of homozygotes: 2

African
type: Population
allele count: 1102
allele frequency: 1.827529021558872e-1
allele num: 6030
num of homozygotes: 74

Other
type: Population
allele count: 66
allele frequency: 1.208791208791209e-1
allele num: 546
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MQRankSum
type: SiteQuality
SIO_000300: 5.5e-2

QD
type: SiteQuality
SIO_000300: 1.659e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 6.32e0

ReadPosRankSum
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SIO_000300: 2.44e-1

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.48981e5

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8682
num of homozygotes: 0

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

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

QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.66e-2

BaseQRankSum
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SIO_000300: -1.067e0

DP
type: SiteQuality
SIO_000300: 5.98088e5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

East Asian
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allele frequency: 5.0e-3
allele num: 200
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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FS
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MQRankSum
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QD
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.896e1

ClippingRankSum
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SIO_000300: -1.229e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 3624
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.313025210084034e-4
allele num: 7616
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -3.1e-2

FS
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DP
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InbreedingCoeff
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SIO_000300: -4.7e-2

ReadPosRankSum
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SIO_000300: -2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
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SIO_000300: -2.842e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.897e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3634
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 7.28e0

DP
type: SiteQuality
SIO_000300: 2.37116e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
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SIO_000300: 4.06e-1

VQSLOD
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SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.86e-2

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
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MQ
type: SiteQuality
SIO_000300: 5.976e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 3636
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East Asian
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African
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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European (Finnish)
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MQ
type: SiteQuality
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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Other
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East Asian
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
allele num: 4504
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.131e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.26e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 1.083189e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.662234042553191e-4
allele num: 6016
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34530
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.938e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 7.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.768e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4566
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3856
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.891844997108155e-5
allele num: 34580
num of homozygotes: 0

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

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.266e0

QD
type: SiteQuality
SIO_000300: 1.911e1

VQSLOD
type: SiteQuality
SIO_000300: -3.432e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.742731760833791e-4
allele num: 3646
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.28e-2

FS
type: SiteQuality
SIO_000300: 8.694000000000001e0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
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SIO_000300: 2.39893e5

ReadPosRankSum
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SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -1.296e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

QD
type: SiteQuality
SIO_000300: 1.59e1

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

South Asian
type: Population
allele count: 4
allele frequency: 5.249343832020997e-4
allele num: 7620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 1.756e0

VQSLOD
type: SiteQuality
SIO_000300: -3.356e-1

DP
type: SiteQuality
SIO_000300: 2.40906e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

GenotypeQuality
all individuals: 411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 989
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.584e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.40617e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.28e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 493
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.712328767123288e-3
allele num: 584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.52e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.346e1

DP
type: SiteQuality
SIO_000300: 2.61579e5

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 381

GenotypeQuality
all individuals: 950
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GenotypeQuality
all individuals: 5
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variant carriers: 4

Other
type: Population
allele count: 3
allele frequency: 2.272727272727273e-2
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.950495049504951e-3
allele num: 202
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 2.73972602739726e-2
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 195
allele frequency: 5.327868852459016e-2
allele num: 3660
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

South Asian
type: Population
allele count: 167
allele frequency: 2.191601049868766e-2
allele num: 7620
num of homozygotes: 6

Latino
type: Population
allele count: 6
allele frequency: 3.191489361702127e-2
allele num: 188
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.346e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.52e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 2.61579e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

GenotypeQuality
all individuals: 630
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variant carriers: 1

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 2195
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GenotypeQuality
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GenotypeQuality
all individuals: 87
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GenotypeQuality
all individuals: 21
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 203
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GenotypeQuality
all individuals: 261
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GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 23

European (Non-Finnish)
type: Population
allele count: 1277
allele frequency: 3.479564032697547e-1
allele num: 3670
num of homozygotes: 233

Other
type: Population
allele count: 45
allele frequency: 3.409090909090909e-1
allele num: 132
num of homozygotes: 4

East Asian
type: Population
allele count: 52
allele frequency: 2.549019607843137e-1
allele num: 204
num of homozygotes: 5

Latino
type: Population
allele count: 46
allele frequency: 2.446808510638298e-1
allele num: 188
num of homozygotes: 9

South Asian
type: Population
allele count: 2895
allele frequency: 3.799212598425197e-1
allele num: 7620
num of homozygotes: 568

European (Finnish)
type: Population
allele count: 3
allele frequency: 3.75e-1
allele num: 8
num of homozygotes: 0

African
type: Population
allele count: 189
allele frequency: 3.192567567567567e-1
allele num: 592
num of homozygotes: 28

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 5.38e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

BaseQRankSum
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SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 4.1868e5

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-1

QD
type: SiteQuality
SIO_000300: 1.736e1

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 556
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South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 4.4e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.31e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

DP
type: SiteQuality
SIO_000300: 2.14071e5

GenotypeQuality
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bin: 1.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 6
allele frequency: 1.079136690647482e-2
allele num: 556
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3596
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
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QD
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VQSLOD
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DP
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MQRankSum
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SIO_000300: -2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-2

ReadPosRankSum
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SIO_000300: 5.48e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512493193780628e-5
allele num: 66116
num of homozygotes: 0

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

InbreedingCoeff
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MQ
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.15e0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.585158150851581e-3
allele num: 6576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.537342327354124e-5
allele num: 66118
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.719e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.506e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQ
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SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 3.152821e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.536518977771057e-5
allele num: 66130
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.279e1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.15318e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

FS
type: SiteQuality
SIO_000300: 5.181e0

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512035805007863e-5
allele num: 66136
num of homozygotes: 0

Other
type: Population
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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QD
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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allele num: 66156
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South Asian
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.103727714748784e-4
allele num: 8638
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.15648e6

MQRankSum
type: SiteQuality
SIO_000300: -4.426e0

VQSLOD
type: SiteQuality
SIO_000300: -2.444e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
type: SiteQuality
SIO_000300: 1.5448e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

MQ
type: SiteQuality
SIO_000300: 5.397e1

QD
type: SiteQuality
SIO_000300: 2.6e0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45069
bin: 9.75e1
variant carriers: 2

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022883226020979e-5
allele num: 66162
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

FS
type: SiteQuality
SIO_000300: 2.452e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.365e1

DP
type: SiteQuality
SIO_000300: 3.156062e6

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022335056064315e-5
allele num: 66174
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.15764e6

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

FS
type: SiteQuality
SIO_000300: 4.049e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1206
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

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

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45081
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2344
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.3216e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.096e0

DP
type: SiteQuality
SIO_000300: 3.158265e6

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
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variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
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variant carriers: 0

GenotypeQuality
all individuals: 1830
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 0
allele frequency: 0.0e0
allele num: 66256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.99e1

FS
type: SiteQuality
SIO_000300: 1.158e0

MQRankSum
type: SiteQuality
SIO_000300: -2.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-1

QD
type: SiteQuality
SIO_000300: 1.334e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.159688e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 1185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 275
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45084
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 2109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.545803024357852e-5
allele num: 66262
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.029678982434888e-3
allele num: 16510
num of homozygotes: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.566e0

FS
type: SiteQuality
SIO_000300: 5.34e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

QD
type: SiteQuality
SIO_000300: 1.284e1

DP
type: SiteQuality
SIO_000300: 3.160421e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.12e-2

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 7
allele frequency: 6.054315862307559e-4
allele num: 11562
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.160109e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 1.144e0

QD
type: SiteQuality
SIO_000300: 1.142e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1217
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.314e1

VQSLOD
type: SiteQuality
SIO_000300: -2.894e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.160079e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.426e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 22
bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50879628232596e-5
allele num: 66278
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.283e1

FS
type: SiteQuality
SIO_000300: 5.808e0

DP
type: SiteQuality
SIO_000300: 3.160036e6

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.304e1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 3.159134e6

MQ
type: SiteQuality
SIO_000300: 5.902e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509069507741527e-5
allele num: 66266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 3.158598e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.158598e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 9.85e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66282
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.178e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.26e-1

DP
type: SiteQuality
SIO_000300: 3.156816e6

FS
type: SiteQuality
SIO_000300: 3.256e0

QD
type: SiteQuality
SIO_000300: 1.101e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.525159888982744e-5
allele num: 66296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.142e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

FS
type: SiteQuality
SIO_000300: 6.095e0

DP
type: SiteQuality
SIO_000300: 3.155739e6

VQSLOD
type: SiteQuality
SIO_000300: 7.87e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66278
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66278
num of homozygotes: 0

East Asian
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South Asian
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.901e1

DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.609e0

FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.466e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45067
bin: 9.75e1
variant carriers: 52

GenotypeQuality
all individuals: 1084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.835589941972921e-4
allele num: 10340
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 6.794504001207912e-4
allele num: 66230
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.736e0

FS
type: SiteQuality
SIO_000300: 1.934e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

DP
type: SiteQuality
SIO_000300: 3.140238e6

GenotypeQuality
all individuals: 1067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45059
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1782
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1808
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510574018126888e-5
allele num: 66200
num of homozygotes: 0

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

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

African
type: Population
allele count: 5
allele frequency: 4.837461300309598e-4
allele num: 10336
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 3.139865e6

QD
type: SiteQuality
SIO_000300: 1.288e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

FS
type: SiteQuality
SIO_000300: 1.218e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

GenotypeQuality
all individuals: 398
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1807
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66216
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.36e0

MQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

FS
type: SiteQuality
SIO_000300: 5.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 3.139741e6

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 1675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
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: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510026576467746e-5
allele num: 66224
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.146e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 3.072e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

DP
type: SiteQuality
SIO_000300: 3.13831e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.146e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e-1

GenotypeQuality
all individuals: 1025
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5355
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 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: 1
allele frequency: 1.531299767242435e-5
allele num: 65304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13748
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.746802e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.172e0

QD
type: SiteQuality
SIO_000300: 1.092e1

VQSLOD
type: SiteQuality
SIO_000300: -1.256e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.906e1

MQRankSum
type: SiteQuality
SIO_000300: -1.323e0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31975
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 3.174e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

DP
type: SiteQuality
SIO_000300: 2.748277e6

MQ
type: SiteQuality
SIO_000300: 5.739e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.02e-1

QD
type: SiteQuality
SIO_000300: 1.89e1

GenotypeQuality
all individuals: 3317
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5595
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3584
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3097
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 1

Latino
type: Population
allele count: 63
allele frequency: 5.459272097053726e-3
allele num: 11540
num of homozygotes: 0

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

African
type: Population
allele count: 37
allele frequency: 3.60202492211838e-3
allele num: 10272
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 110
allele frequency: 1.663138796492289e-2
allele num: 6614
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1273
allele frequency: 1.948986465797048e-2
allele num: 65316
num of homozygotes: 9

Other
type: Population
allele count: 8
allele frequency: 9.324009324009324e-3
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 33
allele frequency: 2.381296002309136e-3
allele num: 13858
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

DP
type: SiteQuality
SIO_000300: 2.75773e6

FS
type: SiteQuality
SIO_000300: 1.147e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.795e0

GenotypeQuality
all individuals: 1820
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6055
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3402
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2213
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3666
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31503
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.128599942971201e-5
allele num: 14028
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

DP
type: SiteQuality
SIO_000300: 2.727863e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1990
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 897
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2188
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3236
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3658
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14148
num of homozygotes: 0

African
type: Population
allele count: 206
allele frequency: 2.005061319836481e-2
allele num: 10274
num of homozygotes: 2

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528864970645792e-5
allele num: 65408
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.371e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.732275e6

VQSLOD
type: SiteQuality
SIO_000300: 6.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1