17-65850634-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850634
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850634
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1192A>G
  hgvsp: ENSP00000334351.5:p.Lys398Glu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1192A>G
  hgvsp: ENSP00000440854.2:p.Lys398Glu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1192A>G
  hgvsp: ENSP00000315454.4:p.Lys398Glu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.775A>G
  hgvsp: ENSP00000388405.3:p.Lys259Glu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1192A>G
  hgvsp: ENSP00000307208.6:p.Lys398Glu
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys398Glu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

17-65850635-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850635
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850635
    reference: chr 17
allele count: 9
allele frequency: 7.412776331828814e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1193A>G
  hgvsp: ENSP00000334351.5:p.Lys398Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1193A>G
  hgvsp: ENSP00000440854.2:p.Lys398Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1193A>G
  hgvsp: ENSP00000315454.4:p.Lys398Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1193A>G
  hgvsp: ENSP00000307208.6:p.Lys398Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.776A>G
  hgvsp: ENSP00000388405.3:p.Lys259Arg
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47472
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys398Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-65850723-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850723
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850723
    reference: chr 17
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1281C>G
  hgvsp: ENSP00000307208.6:p.Asp427Glu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1281C>G
  hgvsp: ENSP00000334351.5:p.Asp427Glu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.864C>G
  hgvsp: ENSP00000388405.3:p.Asp288Glu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1281C>G
  hgvsp: ENSP00000315454.4:p.Asp427Glu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1281C>G
  hgvsp: ENSP00000440854.2:p.Asp427Glu
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11931
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 235
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 7678
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1507
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp427Glu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-65850723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850723
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850723
    reference: chr 17
allele count: 11
allele frequency: 9.060507717905211e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1281C>T
  hgvsp: ENST00000321892.4:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1281C>T
  hgvsp: ENST00000306378.6:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1281C>T
  hgvsp: ENST00000335221.5:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1281C>T
  hgvsp: ENST00000544778.2:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.864C>T
  hgvsp: ENST00000424123.3:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp427Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

17-65850732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850732
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850732
    reference: chr 17
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1290G>A
  hgvsp: ENST00000544778.2:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1290G>A
  hgvsp: ENST00000321892.4:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.873G>A
  hgvsp: ENST00000424123.3:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1290G>A
  hgvsp: ENST00000335221.5:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1290G>A
  hgvsp: ENST00000306378.6:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln430Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

17-65850741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850741
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850741
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1299C>T
  hgvsp: ENST00000335221.5:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1299C>T
  hgvsp: ENST00000306378.6:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1299C>T
  hgvsp: ENST00000321892.4:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1299C>T
  hgvsp: ENST00000544778.2:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.882C>T
  hgvsp: ENST00000424123.3:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val433Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-65850750-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850750
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850750
    reference: chr 17
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1308A>C
  hgvsp: ENST00000321892.4:c.1308A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1308A>C
  hgvsp: ENST00000306378.6:c.1308A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1308A>C
  hgvsp: ENST00000335221.5:c.1308A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.891A>C
  hgvsp: ENST00000424123.3:c.891A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1308A>C
  hgvsp: ENST00000544778.2:c.1308A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7680
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala436Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

17-65850755-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850755
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850755
    reference: chr 17
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1313A>G
  hgvsp: ENSP00000440854.2:p.Lys438Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1313A>G
  hgvsp: ENSP00000315454.4:p.Lys438Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1313A>G
  hgvsp: ENSP00000334351.5:p.Lys438Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1313A>G
  hgvsp: ENSP00000307208.6:p.Lys438Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.896A>G
  hgvsp: ENSP00000388405.3:p.Lys299Arg
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys438Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-65850756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850756
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850756
    reference: chr 17
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.897G>A
  hgvsp: ENST00000424123.3:c.897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1314G>A
  hgvsp: ENST00000544778.2:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1314G>A
  hgvsp: ENST00000321892.4:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1314G>A
  hgvsp: ENST00000306378.6:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1314G>A
  hgvsp: ENST00000335221.5:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys438Lys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

17-65850782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850782
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850782
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1340C>T
  hgvsp: ENSP00000334351.5:p.Ala447Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1340C>T
  hgvsp: ENSP00000315454.4:p.Ala447Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1340C>T
  hgvsp: ENSP00000307208.6:p.Ala447Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1340C>T
  hgvsp: ENSP00000440854.2:p.Ala447Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.923C>T
  hgvsp: ENSP00000388405.3:p.Ala308Val
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala447Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-65850797-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850797
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850797
    reference: chr 17
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1355A>G
  hgvsp: ENSP00000315454.4:p.Asn452Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1355A>G
  hgvsp: ENSP00000440854.2:p.Asn452Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1355A>G
  hgvsp: ENSP00000307208.6:p.Asn452Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1355A>G
  hgvsp: ENSP00000334351.5:p.Asn452Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.938A>G
  hgvsp: ENSP00000388405.3:p.Asn313Ser
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 49
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn452Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-65850811-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850811
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850811
    reference: chr 17
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1369C>A
  hgvsp: ENST00000321892.4:c.1369C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1369C>A
  hgvsp: ENST00000544778.2:c.1369C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.952C>A
  hgvsp: ENST00000424123.3:c.952C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1369C>A
  hgvsp: ENST00000335221.5:c.1369C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1369C>A
  hgvsp: ENST00000306378.6:c.1369C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11813
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47465
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg457Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-65850825-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850825
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850825
    reference: chr 17
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1383T>C
  hgvsp: ENST00000321892.4:c.1383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1383T>C
  hgvsp: ENST00000306378.6:c.1383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.966T>C
  hgvsp: ENST00000424123.3:c.966T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1383T>C
  hgvsp: ENST00000335221.5:c.1383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1383T>C
  hgvsp: ENST00000544778.2:c.1383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile461Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-65850830-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850830
    reference: chr 17
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1388A>G
  hgvsp: ENSP00000440854.2:p.Tyr463Cys
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1388A>G
  hgvsp: ENSP00000307208.6:p.Tyr463Cys
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.971A>G
  hgvsp: ENSP00000388405.3:p.Tyr324Cys
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1388A>G
  hgvsp: ENSP00000315454.4:p.Tyr463Cys
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1388A>G
  hgvsp: ENSP00000334351.5:p.Tyr463Cys
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr463Cys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-65850841-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850841
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850841
    reference: chr 17
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1399C>A
  hgvsp: ENST00000335221.5:c.1399C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1399C>A
  hgvsp: ENST00000321892.4:c.1399C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1399C>A
  hgvsp: ENST00000306378.6:c.1399C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.982C>A
  hgvsp: ENST00000424123.3:c.982C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1399C>A
  hgvsp: ENST00000544778.2:c.1399C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg467Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-65850841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850841
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850841
    reference: chr 17
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1399C>T
  hgvsp: ENSP00000440854.2:p.Arg467Trp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1399C>T
  hgvsp: ENSP00000315454.4:p.Arg467Trp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1399C>T
  hgvsp: ENSP00000334351.5:p.Arg467Trp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1399C>T
  hgvsp: ENSP00000307208.6:p.Arg467Trp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.982C>T
  hgvsp: ENSP00000388405.3:p.Arg328Trp
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg467Trp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

17-65850842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850842
    reference: chr 17
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1400G>A
  hgvsp: ENSP00000440854.2:p.Arg467Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1400G>A
  hgvsp: ENSP00000334351.5:p.Arg467Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.983G>A
  hgvsp: ENSP00000388405.3:p.Arg328Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1400G>A
  hgvsp: ENSP00000315454.4:p.Arg467Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1400G>A
  hgvsp: ENSP00000307208.6:p.Arg467Gln
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg467Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

17-65850852-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850852
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850852
    reference: chr 17
allele count: 1
allele frequency: 8.36638053645232e-6
allele num: 119526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1410C>T
  hgvsp: ENST00000335221.5:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1410C>T
  hgvsp: ENST00000544778.2:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1410C>T
  hgvsp: ENST00000321892.4:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1410C>T
  hgvsp: ENST00000306378.6:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.993C>T
  hgvsp: ENST00000424123.3:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr470Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-65850864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850864
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850864
    reference: chr 17
allele count: 2
allele frequency: 1.710220276371597e-5
allele num: 116944
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1422C>T
  hgvsp: ENST00000306378.6:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1422C>T
  hgvsp: ENST00000544778.2:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1422C>T
  hgvsp: ENST00000321892.4:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1422C>T
  hgvsp: ENST00000335221.5:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1005C>T
  hgvsp: ENST00000424123.3:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn474Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

17-65850878-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850878
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850878
    reference: chr 17
allele count: 1
allele frequency: 9.137593888777207e-6
allele num: 109438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1436T>G
  hgvsp: ENSP00000440854.2:p.Ile479Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1436T>G
  hgvsp: ENSP00000334351.5:p.Ile479Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1436T>G
  hgvsp: ENSP00000307208.6:p.Ile479Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1019T>G
  hgvsp: ENSP00000388405.3:p.Ile340Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1436T>G
  hgvsp: ENSP00000315454.4:p.Ile479Arg
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile479Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

17-65850881-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850881
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850881
    reference: chr 17
allele count: 1
allele frequency: 9.249495902473315e-6
allele num: 108114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1019+3A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1436+3A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1436+3A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1436+3A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1436+3A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32402
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1436+3A>G
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

17-65850883-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850883
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850883
    reference: chr 17
allele count: 1
allele frequency: 9.419033983874614e-6
allele num: 106168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1436+5G>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1019+5G>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1436+5G>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1436+5G>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1436+5G>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8166
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1436+5G>C
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-65850887-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850887
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850887
    reference: chr 17
allele count: 14
allele frequency: 1.348176110319325e-4
allele num: 103844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1436+9A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1436+9A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1436+9A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1436+9A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1019+9A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16347
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17636
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 9.75e1
  variant carriers: 12
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-65850898-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850898
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850898
    reference: chr 17
allele count: 3
allele frequency: 3.046427555952719e-5
allele num: 98476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1436+20A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1436+20A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1436+20A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1436+20A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1019+20A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

17-65850907-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850907
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850907
    reference: chr 17
allele count: 1
allele frequency: 1.071926251473899e-5
allele num: 93290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1436+29A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1436+29A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1436+29A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1436+29A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1019+29A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25302
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6829
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-65850909-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850909
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850909
    reference: chr 17
allele count: 1
allele frequency: 1.082743238268477e-5
allele num: 92358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1436+31G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1436+31G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1436+31G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1436+31G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1019+31G>A
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25240
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8368
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-65850911-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850911
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850911
    reference: chr 17
allele count: 1
allele frequency: 1.106439477760567e-5
allele num: 90380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1436+33A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1436+33A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1019+33A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1436+33A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1436+33A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 3.75e1
  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: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

17-65850918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850918
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850918
    reference: chr 17
allele count: 1
allele frequency: 1.152790906785327e-5
allele num: 86746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1019+40A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1436+40A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1436+40A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1436+40A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1436+40A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5815
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7777
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-65850926-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65850926
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65850926
    reference: chr 17
allele count: 2
allele frequency: 2.519716783833497e-5
allele num: 79374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1019+48A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1436+48A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1436+48A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1436+48A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1436+48A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5047
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5648
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-65862533-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862533
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862533
    reference: chr 17
allele count: 2
allele frequency: 1.71638460746284e-5
allele num: 116524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1020-47T>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1437-47T>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1437-47T>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1437-47T>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1437-47T>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3748
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-65862542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862542
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862542
    reference: chr 17
allele count: 1
allele frequency: 8.572506257929568e-6
allele num: 116652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1437-38G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1437-38G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1437-38G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1020-38G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1437-38G>A
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

17-65862543-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862543
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862543
    reference: chr 17
allele count: 1
allele frequency: 8.56971462850287e-6
allele num: 116690
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1437-37T>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1437-37T>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1437-37T>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1437-37T>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1020-37T>A
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-65862552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862552
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862552
    reference: chr 17
allele count: 1
allele frequency: 8.550516451193652e-6
allele num: 116952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1437-28T>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1020-28T>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1437-28T>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1437-28T>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1437-28T>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

17-65862555-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862555
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862555
    reference: chr 17
allele count: 2
allele frequency: 1.708408788054806e-5
allele num: 117068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1020-25A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1437-25A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1437-25A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1437-25A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1437-25A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-65862558-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862558
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862558
    reference: chr 17
allele count: 1
allele frequency: 8.534316486592589e-6
allele num: 117174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1437-22A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1437-22A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1020-22A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1437-22A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1437-22A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-65862561-TCCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862561
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862558
    reference: chr 17
allele count: 1
allele frequency: 8.527620964303379e-6
allele num: 117266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1020-15_1020-13delCCC
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1437-15_1437-13delCCC
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1437-15_1437-13delCCC
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1437-15_1437-13delCCC
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1437-15_1437-13delCCC
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: TCCC
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

17-65862562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862562
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862562
    reference: chr 17
allele count: 3
allele frequency: 2.558242657843572e-5
allele num: 117268
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1437-18C>T
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1437-18C>T
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1437-18C>T
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1437-18C>T
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1020-18C>T
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-65862566-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862566
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862566
    reference: chr 17
allele count: 20
allele frequency: 1.702185606318513e-4
allele num: 117496
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1437-14C>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1437-14C>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1437-14C>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1437-14C>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1020-14C>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24763
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

17-65862592-AGAAAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862592
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862586
    reference: chr 17
allele count: 1
allele frequency: 8.429570934839416e-6
allele num: 118630
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1461_1466delTGAAAA
  hgvsp: ENSP00000307208.6:p.Asn487_Glu488del
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1461_1466delTGAAAA
  hgvsp: ENSP00000315454.4:p.Asn487_Glu488del
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1461_1466delTGAAAA
  hgvsp: ENSP00000334351.5:p.Asn487_Glu488del
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1461_1466delTGAAAA
  hgvsp: ENSP00000440854.2:p.Asn487_Glu488del
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1044_1049delTGAAAA
  hgvsp: ENSP00000388405.3:p.Asn348_Glu349del
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn487_Glu488del
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: AGAAAAT
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-65862611-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862611
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862611
    reference: chr 17
allele count: 1
allele frequency: 8.368340892734607e-6
allele num: 119498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1468A>C
  hgvsp: ENSP00000440854.2:p.Lys490Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1468A>C
  hgvsp: ENSP00000334351.5:p.Lys490Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1468A>C
  hgvsp: ENSP00000315454.4:p.Lys490Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1468A>C
  hgvsp: ENSP00000307208.6:p.Lys490Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1051A>C
  hgvsp: ENSP00000388405.3:p.Lys351Gln
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys490Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

17-65862613-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862613
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862613
    reference: chr 17
allele count: 2
allele frequency: 1.672296732332185e-5
allele num: 119596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1470A>G
  hgvsp: ENST00000335221.5:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1470A>G
  hgvsp: ENST00000321892.4:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1053A>G
  hgvsp: ENST00000424123.3:c.1053A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1470A>G
  hgvsp: ENST00000306378.6:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1470A>G
  hgvsp: ENST00000544778.2:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys490Lys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-65862625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862625
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862625
    reference: chr 17
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1482C>T
  hgvsp: ENST00000306378.6:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1482C>T
  hgvsp: ENST00000321892.4:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1065C>T
  hgvsp: ENST00000424123.3:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1482C>T
  hgvsp: ENST00000544778.2:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1482C>T
  hgvsp: ENST00000335221.5:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr494Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-65862644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862644
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862644
    reference: chr 17
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1501G>A
  hgvsp: ENSP00000440854.2:p.Ala501Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1501G>A
  hgvsp: ENSP00000315454.4:p.Ala501Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1084G>A
  hgvsp: ENSP00000388405.3:p.Ala362Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1501G>A
  hgvsp: ENSP00000334351.5:p.Ala501Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1501G>A
  hgvsp: ENSP00000307208.6:p.Ala501Thr
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala501Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

17-65862644-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862644
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862644
    reference: chr 17
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1501G>T
  hgvsp: ENSP00000334351.5:p.Ala501Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1084G>T
  hgvsp: ENSP00000388405.3:p.Ala362Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1501G>T
  hgvsp: ENSP00000315454.4:p.Ala501Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1501G>T
  hgvsp: ENSP00000307208.6:p.Ala501Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1501G>T
  hgvsp: ENSP00000440854.2:p.Ala501Ser
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala501Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

17-65862645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862645
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862645
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1085C>T
  hgvsp: ENSP00000388405.3:p.Ala362Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1502C>T
  hgvsp: ENSP00000334351.5:p.Ala501Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1502C>T
  hgvsp: ENSP00000307208.6:p.Ala501Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1502C>T
  hgvsp: ENSP00000440854.2:p.Ala501Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1502C>T
  hgvsp: ENSP00000315454.4:p.Ala501Val
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala501Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-65862654-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862654
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862654
    reference: chr 17
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1511T>C
  hgvsp: ENSP00000307208.6:p.Ile504Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1511T>C
  hgvsp: ENSP00000440854.2:p.Ile504Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1511T>C
  hgvsp: ENSP00000334351.5:p.Ile504Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1094T>C
  hgvsp: ENSP00000388405.3:p.Ile365Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1511T>C
  hgvsp: ENSP00000315454.4:p.Ile504Thr
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile504Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-65862656-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862656
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862656
    reference: chr 17
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1513G>T
  hgvsp: ENSP00000307208.6:p.Asp505Tyr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1513G>T
  hgvsp: ENSP00000315454.4:p.Asp505Tyr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1513G>T
  hgvsp: ENSP00000334351.5:p.Asp505Tyr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1096G>T
  hgvsp: ENSP00000388405.3:p.Asp366Tyr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1513G>T
  hgvsp: ENSP00000440854.2:p.Asp505Tyr
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp505Tyr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-65862686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862686
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862686
    reference: chr 17
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1543G>A
  hgvsp: ENSP00000334351.5:p.Glu515Lys
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1126G>A
  hgvsp: ENSP00000388405.3:p.Glu376Lys
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1543G>A
  hgvsp: ENSP00000307208.6:p.Glu515Lys
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1543G>A
  hgvsp: ENSP00000315454.4:p.Glu515Lys
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1543G>A
  hgvsp: ENSP00000440854.2:p.Glu515Lys
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu515Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

17-65862692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862692
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862692
    reference: chr 17
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1549T>C
  hgvsp: ENSP00000440854.2:p.Cys517Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1549T>C
  hgvsp: ENSP00000307208.6:p.Cys517Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1549T>C
  hgvsp: ENSP00000334351.5:p.Cys517Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1132T>C
  hgvsp: ENSP00000388405.3:p.Cys378Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1549T>C
  hgvsp: ENSP00000315454.4:p.Cys517Arg
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys517Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-65862693-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862693
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862693
    reference: chr 17
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1550G>T
  hgvsp: ENSP00000440854.2:p.Cys517Phe
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1550G>T
  hgvsp: ENSP00000307208.6:p.Cys517Phe
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1133G>T
  hgvsp: ENSP00000388405.3:p.Cys378Phe
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1550G>T
  hgvsp: ENSP00000334351.5:p.Cys517Phe
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1550G>T
  hgvsp: ENSP00000315454.4:p.Cys517Phe
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys517Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

17-65862694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862694
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862694
    reference: chr 17
allele count: 3
allele frequency: 2.473288484368817e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1551C>T
  hgvsp: ENST00000306378.6:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1551C>T
  hgvsp: ENST00000544778.2:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1551C>T
  hgvsp: ENST00000335221.5:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1551C>T
  hgvsp: ENST00000321892.4:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1134C>T
  hgvsp: ENST00000424123.3:c.1134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys517Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-65862714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862714
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862714
    reference: chr 17
allele count: 4
allele frequency: 3.296902560044838e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1571G>A
  hgvsp: ENSP00000334351.5:p.Arg524His
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1571G>A
  hgvsp: ENSP00000307208.6:p.Arg524His
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1571G>A
  hgvsp: ENSP00000315454.4:p.Arg524His
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1154G>A
  hgvsp: ENSP00000388405.3:p.Arg385His
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1571G>A
  hgvsp: ENSP00000440854.2:p.Arg524His
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg524His
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/17-65862718-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862718
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862718
    reference: chr 17
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1575A>C
  hgvsp: ENSP00000334351.5:p.Glu525Asp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1575A>C
  hgvsp: ENSP00000440854.2:p.Glu525Asp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1575A>C
  hgvsp: ENSP00000315454.4:p.Glu525Asp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1575A>C
  hgvsp: ENSP00000307208.6:p.Glu525Asp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1158A>C
  hgvsp: ENSP00000388405.3:p.Glu386Asp
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu525Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-65862725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862725
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862725
    reference: chr 17
allele count: 7
allele frequency: 5.768343331795108e-5
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1582C>T
  hgvsp: ENSP00000307208.6:p.His528Tyr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1582C>T
  hgvsp: ENSP00000440854.2:p.His528Tyr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1165C>T
  hgvsp: ENSP00000388405.3:p.His389Tyr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1582C>T
  hgvsp: ENSP00000315454.4:p.His528Tyr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1582C>T
  hgvsp: ENSP00000334351.5:p.His528Tyr
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3748
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His528Tyr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

17-65862734-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862734
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862734
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1591A>G
  hgvsp: ENSP00000307208.6:p.Met531Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1591A>G
  hgvsp: ENSP00000334351.5:p.Met531Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1174A>G
  hgvsp: ENSP00000388405.3:p.Met392Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1591A>G
  hgvsp: ENSP00000315454.4:p.Met531Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1591A>G
  hgvsp: ENSP00000440854.2:p.Met531Val
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met531Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-65862738-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862738
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862738
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1595A>G
  hgvsp: ENSP00000307208.6:p.Asp532Gly
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1595A>G
  hgvsp: ENSP00000315454.4:p.Asp532Gly
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1178A>G
  hgvsp: ENSP00000388405.3:p.Asp393Gly
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1595A>G
  hgvsp: ENSP00000440854.2:p.Asp532Gly
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1595A>G
  hgvsp: ENSP00000334351.5:p.Asp532Gly
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp532Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

17-65862749-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862749
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862749
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1606G>C
  hgvsp: ENSP00000334351.5:p.Asp536His
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1189G>C
  hgvsp: ENSP00000388405.3:p.Asp397His
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1606G>C
  hgvsp: ENSP00000315454.4:p.Asp536His
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1606G>C
  hgvsp: ENSP00000440854.2:p.Asp536His
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1606G>C
  hgvsp: ENSP00000307208.6:p.Asp536His
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp536His
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-65862752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862752
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862752
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1609C>T
  hgvsp: ENST00000335221.5:c.1609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1609C>T
  hgvsp: ENST00000306378.6:c.1609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1192C>T
  hgvsp: ENST00000424123.3:c.1192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1609C>T
  hgvsp: ENST00000321892.4:c.1609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1609C>T
  hgvsp: ENST00000544778.2:c.1609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu537Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-65862758-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862758
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862758
    reference: chr 17
allele count: 10
allele frequency: 8.239539904091755e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1615A>G
  hgvsp: ENSP00000315454.4:p.Asn539Asp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1615A>G
  hgvsp: ENSP00000307208.6:p.Asn539Asp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1198A>G
  hgvsp: ENSP00000388405.3:p.Asn400Asp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1615A>G
  hgvsp: ENSP00000334351.5:p.Asn539Asp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1615A>G
  hgvsp: ENSP00000440854.2:p.Asn539Asp
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Asn539Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-65862759-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862759
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862759
    reference: chr 17
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1616A>G
  hgvsp: ENSP00000334351.5:p.Asn539Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1616A>G
  hgvsp: ENSP00000440854.2:p.Asn539Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1616A>G
  hgvsp: ENSP00000315454.4:p.Asn539Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1616A>G
  hgvsp: ENSP00000307208.6:p.Asn539Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1199A>G
  hgvsp: ENSP00000388405.3:p.Asn400Ser
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn539Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-65862767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862767
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862767
    reference: chr 17
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1624C>T
  hgvsp: ENSP00000315454.4:p.Arg542Trp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1624C>T
  hgvsp: ENSP00000307208.6:p.Arg542Trp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1624C>T
  hgvsp: ENSP00000334351.5:p.Arg542Trp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1624C>T
  hgvsp: ENSP00000440854.2:p.Arg542Trp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1207C>T
  hgvsp: ENSP00000388405.3:p.Arg403Trp
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg542Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-65862768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862768
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862768
    reference: chr 17
allele count: 10
allele frequency: 8.240490473993012e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1208G>A
  hgvsp: ENSP00000388405.3:p.Arg403Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1625G>A
  hgvsp: ENSP00000307208.6:p.Arg542Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1625G>A
  hgvsp: ENSP00000440854.2:p.Arg542Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1625G>A
  hgvsp: ENSP00000315454.4:p.Arg542Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1625G>A
  hgvsp: ENSP00000334351.5:p.Arg542Gln
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg542Gln
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-65862768-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862768
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862768
    reference: chr 17
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1625G>C
  hgvsp: ENSP00000440854.2:p.Arg542Pro
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1208G>C
  hgvsp: ENSP00000388405.3:p.Arg403Pro
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1625G>C
  hgvsp: ENSP00000307208.6:p.Arg542Pro
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1625G>C
  hgvsp: ENSP00000315454.4:p.Arg542Pro
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1625G>C
  hgvsp: ENSP00000334351.5:p.Arg542Pro
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg542Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-65862769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862769
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862769
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1209G>A
  hgvsp: ENST00000424123.3:c.1209G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1626G>A
  hgvsp: ENST00000544778.2:c.1626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1626G>A
  hgvsp: ENST00000335221.5:c.1626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1626G>A
  hgvsp: ENST00000321892.4:c.1626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1626G>A
  hgvsp: ENST00000306378.6:c.1626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg542Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-65862769-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862769
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862769
    reference: chr 17
allele count: 6
allele frequency: 4.943886883868097e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1626G>T
  hgvsp: ENST00000335221.5:c.1626G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1209G>T
  hgvsp: ENST00000424123.3:c.1209G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1626G>T
  hgvsp: ENST00000306378.6:c.1626G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1626G>T
  hgvsp: ENST00000321892.4:c.1626G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1626G>T
  hgvsp: ENST00000544778.2:c.1626G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg542Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-65862780-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862780
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862780
    reference: chr 17
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1637A>G
  hgvsp: ENSP00000315454.4:p.Lys546Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1637A>G
  hgvsp: ENSP00000334351.5:p.Lys546Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1637A>G
  hgvsp: ENSP00000307208.6:p.Lys546Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1637A>G
  hgvsp: ENSP00000440854.2:p.Lys546Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1220A>G
  hgvsp: ENSP00000388405.3:p.Lys407Arg
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8762
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys546Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-65862792-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862792
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862792
    reference: chr 17
allele count: 11
allele frequency: 9.072164948453609e-5
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1649C>A
  hgvsp: ENSP00000440854.2:p.Ala550Glu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1649C>A
  hgvsp: ENSP00000307208.6:p.Ala550Glu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1232C>A
  hgvsp: ENSP00000388405.3:p.Ala411Glu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1649C>A
  hgvsp: ENSP00000334351.5:p.Ala550Glu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1649C>A
  hgvsp: ENSP00000315454.4:p.Ala550Glu
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25600
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala550Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-65862792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862792
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862792
    reference: chr 17
allele count: 85
allele frequency: 7.010309278350516e-4
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1232C>T
  hgvsp: ENSP00000388405.3:p.Ala411Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1649C>T
  hgvsp: ENSP00000334351.5:p.Ala550Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1649C>T
  hgvsp: ENSP00000440854.2:p.Ala550Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1649C>T
  hgvsp: ENSP00000315454.4:p.Ala550Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1649C>T
  hgvsp: ENSP00000307208.6:p.Ala550Val
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38379
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8725
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala550Val
num of homozygotes: 2
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

17-65862793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862793
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862793
    reference: chr 17
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1650G>A
  hgvsp: ENST00000544778.2:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1650G>A
  hgvsp: ENST00000335221.5:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1650G>A
  hgvsp: ENST00000306378.6:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1233G>A
  hgvsp: ENST00000424123.3:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1650G>A
  hgvsp: ENST00000321892.4:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala550Ala
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-65862794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862794
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862794
    reference: chr 17
allele count: 12
allele frequency: 9.896743971233465e-5
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1651G>A
  hgvsp: ENSP00000440854.2:p.Ala551Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1651G>A
  hgvsp: ENSP00000307208.6:p.Ala551Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1651G>A
  hgvsp: ENSP00000334351.5:p.Ala551Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1651G>A
  hgvsp: ENSP00000315454.4:p.Ala551Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1234G>A
  hgvsp: ENSP00000388405.3:p.Ala412Thr
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38431
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Ala551Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-65862800-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862800
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862800
    reference: chr 17
allele count: 17
allele frequency: 1.403103334433806e-4
allele num: 121160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1657A>G
  hgvsp: ENSP00000334351.5:p.Asn553Asp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1657A>G
  hgvsp: ENSP00000315454.4:p.Asn553Asp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1657A>G
  hgvsp: ENSP00000440854.2:p.Asn553Asp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1240A>G
  hgvsp: ENSP00000388405.3:p.Asn414Asp
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1657A>G
  hgvsp: ENSP00000307208.6:p.Asn553Asp
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25618
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8704
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn553Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-65862813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862813
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862813
    reference: chr 17
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1660+10G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1660+10G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1660+10G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1660+10G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1243+10G>A
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-65862822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862822
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862822
    reference: chr 17
allele count: 1
allele frequency: 8.39785686692756e-6
allele num: 119078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.1660+19C>T
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.1660+19C>T
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  hgvsc: ENST00000335221.5:c.1660+19C>T
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.1660+19C>T
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.1243+19C>T
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11421
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-65862832-T-TCTGTATCTTCTTCTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65862832
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65862847
    reference: chr 17
allele count: 1
allele frequency: 8.460809530255856e-6
allele num: 118192
alternate allele: TCTGTATCTTCTTCTC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000334351
  ensembl transcript: ENST00000335221
  gene symbol: BPTF
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26962
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7684
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
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: 908
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.545e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.704119e6

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.348516631705124e-4
allele num: 66740
num of homozygotes: 0

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

Other
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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QD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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Other
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.996883241428914e-5
allele num: 66736
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South Asian
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.996883241428914e-5
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South Asian
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Latino
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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African
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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South Asian
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African
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European (Finnish)
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East Asian
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Other
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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DP
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FS
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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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East Asian
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European (Non-Finnish)
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Other
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African
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Latino
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South Asian
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European (Finnish)
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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FS
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QD
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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Other
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East Asian
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African
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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African
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South Asian
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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East Asian
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European (Finnish)
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South Asian
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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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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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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African
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MQRankSum
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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allele num: 6612
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

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

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.202e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.212e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.317e0

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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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.104e0

QD
type: SiteQuality
SIO_000300: 1.342e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.688412e6

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.679633e6

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
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GenotypeQuality
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510254628930438e-5
allele num: 66214
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.679633e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.29e1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

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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bin: 5.25e1
variant carriers: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.715e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.67808e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

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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variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521421616358325e-5
allele num: 65728
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16052
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.847e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.225e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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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
allele num: 15218
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.048780487804878e-4
allele num: 6560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.315e0

DP
type: SiteQuality
SIO_000300: 1.61388e6

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.689e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.02e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele frequency: 0.0e0
allele num: 13522
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.653548515113433e-5
allele num: 60476
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

Other
type: Population
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allele frequency: 0.0e0
allele num: 850
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African
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allele frequency: 0.0e0
allele num: 9440
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Latino
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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QD
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FS
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
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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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variant carriers: 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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Latino
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Other
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East Asian
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allele frequency: 1.264862130027827e-4
allele num: 7906
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 59744
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

ReadPosRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.76e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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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East Asian
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6328
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.702359470225733e-5
allele num: 58742
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.831e0

QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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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bin: 3.25e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 14
allele frequency: 2.433851395987622e-4
allele num: 57522
num of homozygotes: 0

Other
type: Population
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East Asian
type: Population
allele count: 0
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allele num: 7502
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Latino
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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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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African
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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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Latino
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 4.256526674233825e-4
allele num: 7048
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South Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

DP
type: SiteQuality
SIO_000300: 1.058954e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-2

GenotypeQuality
all individuals: 596
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.183431952662722e-4
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52032
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

QD
type: SiteQuality
SIO_000300: 7.97e0

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

DP
type: SiteQuality
SIO_000300: 9.41434e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

GenotypeQuality
all individuals: 25103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 178
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variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.941822983416832e-5
allele num: 51498
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.178e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.027e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

DP
type: SiteQuality
SIO_000300: 9.31236e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.204e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 7291
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6620
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5978
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.585791309863622e-4
allele num: 6306
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50560
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

QD
type: SiteQuality
SIO_000300: 1.579e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

DP
type: SiteQuality
SIO_000300: 9.03998e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
all individuals: 1292
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4615
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48568
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.24595066035385e-4
allele num: 8026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.078e1

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 8.66318e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 17044
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5537
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variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 1963
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variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.468474909513383e-5
allele num: 44758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

QD
type: SiteQuality
SIO_000300: 1.144e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 6.125e1

DP
type: SiteQuality
SIO_000300: 8.38592e5

GenotypeQuality
all individuals: 1874
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1058
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variant carriers: 0

GenotypeQuality
all individuals: 8204
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.118567953595709e-5
allele num: 64132
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: 15958
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

DP
type: SiteQuality
SIO_000300: 1.724004e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.253e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 2.679e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeQuality
all individuals: 760
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64162
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.763e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

QD
type: SiteQuality
SIO_000300: 1.325e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

DP
type: SiteQuality
SIO_000300: 1.733873e6

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.253e0

GenotypeQuality
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3743
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 440
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558117793705204e-5
allele num: 64180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -8.198e-1

FS
type: SiteQuality
SIO_000300: 2.935e0

QD
type: SiteQuality
SIO_000300: 1.651e1

MQRankSum
type: SiteQuality
SIO_000300: -1.365e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.73517e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8388
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556081165193577e-5
allele num: 64264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.748047e6

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.417e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

GenotypeQuality
all individuals: 1894
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 9.25e1
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GenotypeQuality
all individuals: 768
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variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.109549426288131e-5
allele num: 64318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
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: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9036
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.75145e6

FS
type: SiteQuality
SIO_000300: 9.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.080000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

QD
type: SiteQuality
SIO_000300: 1.472e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.25e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
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variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.105705440070765e-4
allele num: 9044
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.227e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.289e0

FS
type: SiteQuality
SIO_000300: 3.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.72e1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

DP
type: SiteQuality
SIO_000300: 1.753812e6

GenotypeQuality
all individuals: 3086
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35953
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64404
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Other
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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: 8516
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9056
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.128953174797744e-5
allele num: 16316
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.756517e6

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

FS
type: SiteQuality
SIO_000300: 9.324e0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

QD
type: SiteQuality
SIO_000300: 5.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64406
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.103996467211305e-4
allele num: 9058
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.043e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.301e0

DP
type: SiteQuality
SIO_000300: 1.757839e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e-1

GenotypeQuality
all individuals: 1900
bin: 8.25e1
variant carriers: 0

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: 20

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.100390649221802e-4
allele num: 64508
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8532
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9084
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.762021e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.08e-1

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

FS
type: SiteQuality
SIO_000300: 6.921e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.861e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533742331288344e-5
allele num: 65200
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.776885e6

MQRankSum
type: SiteQuality
SIO_000300: -6.062e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.419e1

FS
type: SiteQuality
SIO_000300: 5.033e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

GenotypeQuality
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GenotypeQuality
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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: 7.5e0
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521282745611099e-5
allele num: 65734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.787018e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.689e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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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: 9602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.02571860816944e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65784
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

FS
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.788224e6

QD
type: SiteQuality
SIO_000300: 1.483e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

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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bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66164
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: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.16e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 1.794505e6

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.098e0

FS
type: SiteQuality
SIO_000300: 9.013999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.24e0

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
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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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variant carriers: 0

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

European (Finnish)
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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: 902
num of homozygotes: 0

African
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: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.5e-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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bin: 9.75e1
variant carriers: 1

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: 11576
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

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

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66448
num of homozygotes: 0

African
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 3.96e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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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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variant carriers: 0

European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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Latino
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South Asian
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.3844e1

QD
type: SiteQuality
SIO_000300: 1.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.027e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.147e0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 1.801186e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

GenotypeQuality
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bin: 1.75e1
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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bin: 9.75e1
variant carriers: 2

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.766e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.804577e6

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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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

FS
type: SiteQuality
SIO_000300: 2.313e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.36e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

DP
type: SiteQuality
SIO_000300: 1.80457e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.472e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.84e0

FS
type: SiteQuality
SIO_000300: 1.445e0

MQRankSum
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DP
type: SiteQuality
SIO_000300: 1.804697e6

VQSLOD
type: SiteQuality
SIO_000300: 3.25e-1

GenotypeQuality
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variant carriers: 3

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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bin: 6.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496133325340207e-5
allele num: 66724
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 2.504e0

DP
type: SiteQuality
SIO_000300: 1.80465e6

QD
type: SiteQuality
SIO_000300: 1.18e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.159e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.092e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 2609
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 3
allele frequency: 4.496133325340207e-5
allele num: 66724
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.806145e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

MQ
type: SiteQuality
SIO_000300: 5.455e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.208e1

MQRankSum
type: SiteQuality
SIO_000300: -4.604e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.805828e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

VQSLOD
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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

East Asian
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allele count: 7
allele frequency: 8.088745088976196e-4
allele num: 8654
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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DP
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
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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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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East Asian
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African
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Other
type: Population
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQ
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QD
type: SiteQuality
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

European (Finnish)
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allele count: 0
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allele num: 6614
num of homozygotes: 0

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

East Asian
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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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 frequency: 9.637625289128758e-5
allele num: 10376
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South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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African
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Latino
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.53e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.805443e6

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.008e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.564e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

GenotypeQuality
all individuals: 3168
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3721
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8766
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990919171636647e-5
allele num: 66734
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.279e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: -4.319e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.625e0

DP
type: SiteQuality
SIO_000300: 1.805886e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.716e1

GenotypeQuality
all individuals: 3168
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8767
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.805853e6

QD
type: SiteQuality
SIO_000300: 1.541e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

MQ
type: SiteQuality
SIO_000300: 5.996e1

FS
type: SiteQuality
SIO_000300: 1.077e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 3168
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1949
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.024e0

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.358e1

DP
type: SiteQuality
SIO_000300: 1.805586e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.43e-1

GenotypeQuality
all individuals: 3715
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8761
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.991458114790949e-5
allele num: 66730
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.718e1

QD
type: SiteQuality
SIO_000300: 8.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.573e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e0

MQRankSum
type: SiteQuality
SIO_000300: -4.311e0

DP
type: SiteQuality
SIO_000300: 1.805811e6

GenotypeQuality
all individuals: 1949
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.573e0

QD
type: SiteQuality
SIO_000300: 8.4e-1

MQ
type: SiteQuality
SIO_000300: 5.718e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: -4.311e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e0

DP
type: SiteQuality
SIO_000300: 1.805811e6

GenotypeQuality
all individuals: 1948
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

DP
type: SiteQuality
SIO_000300: 1.805343e6

QD
type: SiteQuality
SIO_000300: 1.293e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.398e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38536
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990649724286742e-5
allele num: 66736
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.805343e6

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.398e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.293e1

GenotypeQuality
all individuals: 3731
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38518
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3168
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 11572
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.167e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.804385e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e0

GenotypeQuality
all individuals: 2592
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 8725
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.649818519962804e-4
allele num: 66674
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 4.024e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.85e-2

QD
type: SiteQuality
SIO_000300: 1.077e1

DP
type: SiteQuality
SIO_000300: 1.805811e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 1932
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3724
bin: 9.75e1
variant carriers: 75

GenotypeQuality
all individuals: 3150
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 1

South Asian
type: Population
allele count: 73
allele frequency: 4.42263419362656e-3
allele num: 16506
num of homozygotes: 2

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

Latino
type: Population
allele count: 3
allele frequency: 2.594258042199931e-4
allele num: 11564
num of homozygotes: 0

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

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

African
type: Population
allele count: 3
allele frequency: 2.901353965183752e-4
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.999010108888022e-5
allele num: 66674
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.85e-2

DP
type: SiteQuality
SIO_000300: 1.805811e6

FS
type: SiteQuality
SIO_000300: 4.024e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.077e1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2597
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3679
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 2.25e1
variant carriers: 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: 10342
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: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

FS
type: SiteQuality
SIO_000300: 2.298e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

DP
type: SiteQuality
SIO_000300: 1.801026e6

GenotypeQuality
all individuals: 1075
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8727
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1930
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3155
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.934610176049526e-4
allele num: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
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: 6
allele frequency: 8.997930475990522e-5
allele num: 66682
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.644e0

FS
type: SiteQuality
SIO_000300: 7.142e0

MQ
type: SiteQuality
SIO_000300: 5.69e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.073e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.126e0

MQRankSum
type: SiteQuality
SIO_000300: -4.052e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.056e0

DP
type: SiteQuality
SIO_000300: 1.800972e6

QD
type: SiteQuality
SIO_000300: 7.0e-1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3648
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.250967916203968e-4
allele num: 66638
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.796859e6

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e0

GenotypeQuality
all individuals: 3065
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183992422448496e-4
allele num: 8446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66086
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.64e0

VQSLOD
type: SiteQuality
SIO_000300: -2.955e0

MQRankSum
type: SiteQuality
SIO_000300: -1.263e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.416e0

FS
type: SiteQuality
SIO_000300: 8.273e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

DP
type: SiteQuality
SIO_000300: 1.753582e6

GenotypeQuality
all individuals: 2243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.204819277108434e-4
allele num: 8300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.559e0

VQSLOD
type: SiteQuality
SIO_000300: 4.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 7.46e0

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.154e0

DP
type: SiteQuality
SIO_000300: 1.692013e6

MQ
type: SiteQuality
SIO_000300: 6.0e1