17-65925454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925454
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925454
    reference: chr 17
allele count: 15
allele frequency: 1.236990978212466e-4
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.650G>A
  hgvsp: ENSP00000463776.1:p.Val218Ile
  variant of: http://identifiers.org/hgnc/3581
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.6190G>A
  hgvsp: ENSP00000440854.2:p.Val2064Ile
  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.6379G>A
  hgvsp: ENSP00000315454.4:p.Val2127Ile
  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.5962G>A
  hgvsp: ENSP00000388405.3:p.Val1988Ile
  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.6001G>A
  hgvsp: ENSP00000307208.6:p.Val2001Ile
  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.6379G>A
  hgvsp: ENSP00000334351.5:p.Val2127Ile
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val2001Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

17-65925457-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925457
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925457
    reference: chr 17
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.6004G>A
  hgvsp: ENSP00000307208.6:p.Val2002Ile
  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.6193G>A
  hgvsp: ENSP00000440854.2:p.Val2065Ile
  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.6382G>A
  hgvsp: ENSP00000315454.4:p.Val2128Ile
  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.6382G>A
  hgvsp: ENSP00000334351.5:p.Val2128Ile
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.653G>A
  hgvsp: ENSP00000463776.1:p.Val219Ile
  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.5965G>A
  hgvsp: ENSP00000388405.3:p.Val1989Ile
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.25e1
  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: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val2002Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

17-65925467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925467
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
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.6203A>G
  hgvsp: ENSP00000440854.2:p.Gln2068Arg
  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.6392A>G
  hgvsp: ENSP00000334351.5:p.Gln2131Arg
  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.6392A>G
  hgvsp: ENSP00000315454.4:p.Gln2131Arg
  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.6014A>G
  hgvsp: ENSP00000307208.6:p.Gln2005Arg
  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.5975A>G
  hgvsp: ENSP00000388405.3:p.Gln1992Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.663A>G
  hgvsp: ENSP00000463776.1:p.Gln222Arg
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln2005Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-65925488-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925488
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925488
    reference: chr 17
allele count: 8
allele frequency: 6.59098024353672e-5
allele num: 121378
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.6224T>C
  hgvsp: ENSP00000440854.2:p.Ile2075Thr
  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.5996T>C
  hgvsp: ENSP00000388405.3:p.Ile1999Thr
  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.6413T>C
  hgvsp: ENSP00000315454.4:p.Ile2138Thr
  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.6413T>C
  hgvsp: ENSP00000334351.5:p.Ile2138Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.684T>C
  hgvsp: ENSP00000463776.1:p.Ile229Thr
  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.6035T>C
  hgvsp: ENSP00000307208.6:p.Ile2012Thr
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile2012Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-65925497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925497
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925497
    reference: chr 17
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
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.6005G>A
  hgvsp: ENSP00000388405.3:p.Ser2002Asn
  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.6422G>A
  hgvsp: ENSP00000315454.4:p.Ser2141Asn
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.693G>A
  hgvsp: ENSP00000463776.1:p.Ser232Asn
  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.6233G>A
  hgvsp: ENSP00000440854.2:p.Ser2078Asn
  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.6422G>A
  hgvsp: ENSP00000334351.5:p.Ser2141Asn
  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.6044G>A
  hgvsp: ENSP00000307208.6:p.Ser2015Asn
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser2015Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-65925498-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925498
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925498
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.694T>C
  hgvsp: ENST00000582467.1:c.694T>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.6423T>C
  hgvsp: ENST00000335221.5:c.6423T>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.6006T>C
  hgvsp: ENST00000424123.3:c.6006T>C(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.6423T>C
  hgvsp: ENST00000321892.4:c.6423T>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.6234T>C
  hgvsp: ENST00000544778.2:c.6234T>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.6045T>C
  hgvsp: ENST00000306378.6:c.6045T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser2015Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-65925504-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925504
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925504
    reference: chr 17
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.6051T>G
  hgvsp: ENST00000306378.6:c.6051T>G(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.6429T>G
  hgvsp: ENST00000335221.5:c.6429T>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.6240T>G
  hgvsp: ENST00000544778.2:c.6240T>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.6012T>G
  hgvsp: ENST00000424123.3:c.6012T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.700T>G
  hgvsp: ENST00000582467.1:c.700T>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.6429T>G
  hgvsp: ENST00000321892.4:c.6429T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly2017Gly
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-65925505-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925505
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925505
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
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.6430A>G
  hgvsp: ENSP00000334351.5:p.Thr2144Ala
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.701A>G
  hgvsp: ENSP00000463776.1:p.Thr235Ala
  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.6013A>G
  hgvsp: ENSP00000388405.3:p.Thr2005Ala
  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.6052A>G
  hgvsp: ENSP00000307208.6:p.Thr2018Ala
  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.6430A>G
  hgvsp: ENSP00000315454.4:p.Thr2144Ala
  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.6241A>G
  hgvsp: ENSP00000440854.2:p.Thr2081Ala
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr2018Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ

17-65925529-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925529
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925529
    reference: chr 17
allele count: 27
allele frequency: 2.224785761371127e-4
allele num: 121360
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.6454T>G
  hgvsp: ENSP00000334351.5:p.Phe2152Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.725T>G
  hgvsp: ENSP00000463776.1:p.Phe243Val
  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.6037T>G
  hgvsp: ENSP00000388405.3:p.Phe2013Val
  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.6265T>G
  hgvsp: ENSP00000440854.2:p.Phe2089Val
  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.6454T>G
  hgvsp: ENSP00000315454.4:p.Phe2152Val
  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.6076T>G
  hgvsp: ENSP00000307208.6:p.Phe2026Val
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe2026Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

17-65925534-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925534
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925534
    reference: chr 17
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
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.6270G>A
  hgvsp: ENST00000544778.2:c.6270G>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.6081G>A
  hgvsp: ENST00000306378.6:c.6081G>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.6459G>A
  hgvsp: ENST00000335221.5:c.6459G>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.6459G>A
  hgvsp: ENST00000321892.4:c.6459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.730G>A
  hgvsp: ENST00000582467.1:c.730G>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.6042G>A
  hgvsp: ENST00000424123.3:c.6042G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln2027Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-65925538-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925538
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925538
    reference: chr 17
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
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.6463A>G
  hgvsp: ENSP00000334351.5:p.Arg2155Gly
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.734A>G
  hgvsp: ENSP00000463776.1:p.Arg246Gly
  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.6046A>G
  hgvsp: ENSP00000388405.3:p.Arg2016Gly
  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.6274A>G
  hgvsp: ENSP00000440854.2:p.Arg2092Gly
  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.6463A>G
  hgvsp: ENSP00000315454.4:p.Arg2155Gly
  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.6085A>G
  hgvsp: ENSP00000307208.6:p.Arg2029Gly
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30414
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg2029Gly
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

17-65925547-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925547
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925547
    reference: chr 17
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
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.6472A>G
  hgvsp: ENSP00000334351.5:p.Thr2158Ala
  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.6055A>G
  hgvsp: ENSP00000388405.3:p.Thr2019Ala
  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.6283A>G
  hgvsp: ENSP00000440854.2:p.Thr2095Ala
  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.6094A>G
  hgvsp: ENSP00000307208.6:p.Thr2032Ala
  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.6472A>G
  hgvsp: ENSP00000315454.4:p.Thr2158Ala
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.743A>G
  hgvsp: ENSP00000463776.1:p.Thr249Ala
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr2032Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

17-65925550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925550
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925550
    reference: chr 17
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
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.6058G>A
  hgvsp: ENSP00000388405.3:p.Val2020Ile
  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.6475G>A
  hgvsp: ENSP00000334351.5:p.Val2159Ile
  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.6097G>A
  hgvsp: ENSP00000307208.6:p.Val2033Ile
  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.6286G>A
  hgvsp: ENSP00000440854.2:p.Val2096Ile
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.746G>A
  hgvsp: ENSP00000463776.1:p.Val250Ile
  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.6475G>A
  hgvsp: ENSP00000315454.4:p.Val2159Ile
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val2033Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-65925556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925556
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925556
    reference: chr 17
allele count: 35
allele frequency: 2.887169419101513e-4
allele num: 121226
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.6481A>G
  hgvsp: ENSP00000315454.4:p.Ile2161Val
  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.6481A>G
  hgvsp: ENSP00000334351.5:p.Ile2161Val
  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.6064A>G
  hgvsp: ENSP00000388405.3:p.Ile2022Val
  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.6103A>G
  hgvsp: ENSP00000307208.6:p.Ile2035Val
  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.6292A>G
  hgvsp: ENSP00000440854.2:p.Ile2098Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.752A>G
  hgvsp: ENSP00000463776.1:p.Ile252Val
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30365
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 9.75e1
  variant carriers: 34
hgvs: p.Ile2035Val
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

17-65925570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925570
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925570
    reference: chr 17
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
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.6117C>T
  hgvsp: ENST00000306378.6:c.6117C>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.6306C>T
  hgvsp: ENST00000544778.2:c.6306C>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.6495C>T
  hgvsp: ENST00000321892.4:c.6495C>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.6495C>T
  hgvsp: ENST00000335221.5:c.6495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.766C>T
  hgvsp: ENST00000582467.1:c.766C>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.6078C>T
  hgvsp: ENST00000424123.3:c.6078C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr2039Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-65925573-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925573
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925573
    reference: chr 17
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.6081A>C
  hgvsp: ENST00000424123.3:c.6081A>C(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.6498A>C
  hgvsp: ENST00000321892.4:c.6498A>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.6120A>C
  hgvsp: ENST00000306378.6:c.6120A>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.6309A>C
  hgvsp: ENST00000544778.2:c.6309A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.769A>C
  hgvsp: ENST00000582467.1:c.769A>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.6498A>C
  hgvsp: ENST00000335221.5:c.6498A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser2040Ser
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum

17-65925577-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925577
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925577
    reference: chr 17
allele count: 3
allele frequency: 2.487067250298448e-5
allele num: 120624
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.6124T>C
  hgvsp: ENSP00000307208.6:p.Ser2042Pro
  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.6313T>C
  hgvsp: ENSP00000440854.2:p.Ser2105Pro
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.773T>C
  hgvsp: ENSP00000463776.1:p.Ser259Pro
  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.6085T>C
  hgvsp: ENSP00000388405.3:p.Ser2029Pro
  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.6502T>C
  hgvsp: ENSP00000315454.4:p.Ser2168Pro
  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.6502T>C
  hgvsp: ENSP00000334351.5:p.Ser2168Pro
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser2042Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-65925578-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925578
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925578
    reference: chr 17
allele count: 8
allele frequency: 6.637461834594451e-5
allele num: 120528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.774C>G
  hgvsp: ENSP00000463776.1:p.Ser259Cys
  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.6314C>G
  hgvsp: ENSP00000440854.2:p.Ser2105Cys
  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.6086C>G
  hgvsp: ENSP00000388405.3:p.Ser2029Cys
  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.6503C>G
  hgvsp: ENSP00000315454.4:p.Ser2168Cys
  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.6503C>G
  hgvsp: ENSP00000334351.5:p.Ser2168Cys
  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.6125C>G
  hgvsp: ENSP00000307208.6:p.Ser2042Cys
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29936
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser2042Cys
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-65925583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925583
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925583
    reference: chr 17
allele count: 1
allele frequency: 8.3380582329987e-6
allele num: 119932
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.6508G>A
  hgvsp: ENSP00000334351.5:p.Gly2170Arg
  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.6091G>A
  hgvsp: ENSP00000388405.3:p.Gly2031Arg
  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.6319G>A
  hgvsp: ENSP00000440854.2:p.Gly2107Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.779G>A
  hgvsp: ENSP00000463776.1:p.Gly261Arg
  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.6508G>A
  hgvsp: ENSP00000315454.4:p.Gly2170Arg
  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.6130G>A
  hgvsp: ENSP00000307208.6:p.Gly2044Arg
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly2044Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-65925586-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925586
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925586
    reference: chr 17
allele count: 2
allele frequency: 1.673164120668596e-5
allele num: 119534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.6094A>C
  hgvsp: ENSP00000388405.3:p.Thr2032Pro
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.782A>C
  hgvsp: ENSP00000463776.1:p.Thr262Pro
  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.6322A>C
  hgvsp: ENSP00000440854.2:p.Thr2108Pro
  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.6133A>C
  hgvsp: ENSP00000307208.6:p.Thr2045Pro
  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.6511A>C
  hgvsp: ENSP00000334351.5:p.Thr2171Pro
  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.6511A>C
  hgvsp: ENSP00000315454.4:p.Thr2171Pro
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr2045Pro
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-65925587-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925587
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925587
    reference: chr 17
allele count: 1
allele frequency: 8.366660531115611e-6
allele num: 119522
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.6134C>A
  hgvsp: ENSP00000307208.6:p.Thr2045Asn
  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.6512C>A
  hgvsp: ENSP00000334351.5:p.Thr2171Asn
  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.6512C>A
  hgvsp: ENSP00000315454.4:p.Thr2171Asn
  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.6323C>A
  hgvsp: ENSP00000440854.2:p.Thr2108Asn
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.783C>A
  hgvsp: ENSP00000463776.1:p.Thr262Asn
  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.6095C>A
  hgvsp: ENSP00000388405.3:p.Thr2032Asn
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16664
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr2045Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

17-65925589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925589
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925589
    reference: chr 17
allele count: 1
allele frequency: 8.39278220730172e-6
allele num: 119150
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.6514A>G
  hgvsp: ENSP00000315454.4:p.Thr2172Ala
  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.6136A>G
  hgvsp: ENSP00000307208.6:p.Thr2046Ala
  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.6514A>G
  hgvsp: ENSP00000334351.5:p.Thr2172Ala
  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.6097A>G
  hgvsp: ENSP00000388405.3:p.Thr2033Ala
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.785A>G
  hgvsp: ENSP00000463776.1:p.Thr263Ala
  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.6325A>G
  hgvsp: ENSP00000440854.2:p.Thr2109Ala
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 277
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45213
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr2046Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-65925595-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925595
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925595
    reference: chr 17
allele count: 2
allele frequency: 1.701519456874989e-5
allele num: 117542
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.6331A>C
  hgvsp: ENSP00000440854.2:p.Asn2111His
  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.6520A>C
  hgvsp: ENSP00000334351.5:p.Asn2174His
  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.6142A>C
  hgvsp: ENSP00000307208.6:p.Asn2048His
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.791A>C
  hgvsp: ENSP00000463776.1:p.Asn265His
  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.6103A>C
  hgvsp: ENSP00000388405.3:p.Asn2035His
  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.6520A>C
  hgvsp: ENSP00000315454.4:p.Asn2174His
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn2048His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

17-65925611-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925611
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925611
    reference: chr 17
allele count: 1
allele frequency: 9.04093736438594e-6
allele num: 110608
alternate allele: A
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.6339+8T>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.799+8T>A
  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.6111+8T>A
  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.6528+8T>A
  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.6150+8T>A
  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.6528+8T>A
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
hgvs: c.6150+8T>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/17-65925616-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925616
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925616
    reference: chr 17
allele count: 1
allele frequency: 9.201155665151542e-6
allele num: 108682
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.6111+13A>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.799+13A>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.6150+13A>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.6528+13A>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.6339+13A>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.6528+13A>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13150
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15888
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

17-65925625-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925625
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925625
    reference: chr 17
allele count: 15
allele frequency: 1.42555739294064e-4
allele num: 105222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.799+22T>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.6528+22T>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.6150+22T>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.6528+22T>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.6111+22T>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.6339+22T>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21095
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

17-65925630-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925630
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925630
    reference: chr 17
allele count: 1
allele frequency: 9.668935643564357e-6
allele num: 103424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.799+27T>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.6111+27T>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.6339+27T>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.6150+27T>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.6528+27T>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.6528+27T>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5017
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

17-65925633-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925633
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925633
    reference: chr 17
allele count: 2
allele frequency: 1.962477431509538e-5
allele num: 101912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.799+30G>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.6150+30G>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.6528+30G>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.6528+30G>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.6339+30G>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.6111+30G>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-65925647-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925647
    reference: chr 17
allele count: 2
allele frequency: 2.174102095834421e-5
allele num: 91992
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.6528+44A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.799+44A>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.6111+44A>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.6528+44A>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.6150+44A>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.6339+44A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22754
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8087
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-65925655-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65925655
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65925655
    reference: chr 17
allele count: 8
allele frequency: 9.66440358549373e-5
allele num: 82778
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.6150+52A>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.6528+52A>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.6528+52A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.799+52A>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.6339+52A>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.6111+52A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11938
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14517
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20925
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8019
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genotype quality: GenotypeQuality
  all individuals: 13162
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5868
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-65927976-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65927976
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65927976
    reference: chr 17
allele count: 6
allele frequency: 5.388995670840144e-5
allele num: 111338
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.6151-51C>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.6529-51C>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.6529-51C>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.6340-51C>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.800-51C>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.6112-51C>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12296
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13288
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16618
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6703
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

17-65927979-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65927979
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65927979
    reference: chr 17
allele count: 1
allele frequency: 8.947585046795869e-6
allele num: 111762
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.6112-48T>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.6529-48T>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.6340-48T>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.6151-48T>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.800-48T>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.6529-48T>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14157
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6464
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5297
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-65927983-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65927983
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65927983
    reference: chr 17
allele count: 2
allele frequency: 1.792146812666894e-5
allele num: 111598
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.6529-44C>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.6529-44C>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.6112-44C>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.800-44C>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.6340-44C>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.6151-44C>A
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12758
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18294
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-65927998-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65927998
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65927997
    reference: chr 17
allele count: 11
allele frequency: 9.493889387557827e-5
allele num: 115864
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.6340-27delA
  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.6529-27delA
  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.6529-27delA
  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.6151-27delA
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.800-27delA
  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.6112-27delA
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36217
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: TA
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-65928003-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928003
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928003
    reference: chr 17
allele count: 2
allele frequency: 1.69548999660902e-5
allele num: 117960
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.6529-24C>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.6151-24C>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.800-24C>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.6112-24C>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.6529-24C>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.6340-24C>A
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-65928005-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928005
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928005
    reference: chr 17
allele count: 1
allele frequency: 8.43127666391245e-6
allele num: 118606
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.6529-22T>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.6340-22T>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.800-22T>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.6151-22T>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.6529-22T>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.6112-22T>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-65928009-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928009
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928009
    reference: chr 17
allele count: 1
allele frequency: 8.35282325425994e-6
allele num: 119720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000440854
  ensembl transcript: ENST00000544778
  gene symbol: BPTF
  hgvsc: ENST00000544778.2:c.6340-18T>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.6151-18T>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.6529-18T>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.6112-18T>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.6529-18T>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.800-18T>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 6462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

17-65928014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928014
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928014
    reference: chr 17
allele count: 2
allele frequency: 1.66021948101539e-5
allele num: 120466
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.6340-13G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.800-13G>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.6529-13G>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.6151-13G>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.6112-13G>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.6529-13G>A
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

17-65928032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928032
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928032
    reference: chr 17
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
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.6156C>T
  hgvsp: ENST00000306378.6:c.6156C>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.6117C>T
  hgvsp: ENST00000424123.3:c.6117C>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.6534C>T
  hgvsp: ENST00000321892.4:c.6534C>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.6534C>T
  hgvsp: ENST00000335221.5:c.6534C>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.6345C>T
  hgvsp: ENST00000544778.2:c.6345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.805C>T
  hgvsp: ENST00000582467.1:c.805C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile2052Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

17-65928049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928049
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928049
    reference: chr 17
allele count: 7
allele frequency: 5.76881871075143e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.6173G>A
  hgvsp: ENSP00000307208.6:p.Arg2058His
  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.6551G>A
  hgvsp: ENSP00000315454.4:p.Arg2184His
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.822G>A
  hgvsp: ENSP00000463776.1:p.Arg275His
  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.6134G>A
  hgvsp: ENSP00000388405.3:p.Arg2045His
  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.6551G>A
  hgvsp: ENSP00000334351.5:p.Arg2184His
  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.6362G>A
  hgvsp: ENSP00000440854.2:p.Arg2121His
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg2058His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-65928057-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928057
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928057
    reference: chr 17
allele count: 5
allele frequency: 4.119973632168754e-5
allele num: 121360
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.6181A>G
  hgvsp: ENSP00000307208.6:p.Met2061Val
  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.6142A>G
  hgvsp: ENSP00000388405.3:p.Met2048Val
  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.6370A>G
  hgvsp: ENSP00000440854.2:p.Met2124Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.830A>G
  hgvsp: ENSP00000463776.1:p.Met278Val
  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.6559A>G
  hgvsp: ENSP00000315454.4:p.Met2187Val
  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.6559A>G
  hgvsp: ENSP00000334351.5:p.Met2187Val
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43189
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met2061Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-65928060-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928060
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928060
    reference: chr 17
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
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.6373A>C
  hgvsp: ENSP00000440854.2:p.Thr2125Pro
  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.6562A>C
  hgvsp: ENSP00000315454.4:p.Thr2188Pro
  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.6184A>C
  hgvsp: ENSP00000307208.6:p.Thr2062Pro
  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.6145A>C
  hgvsp: ENSP00000388405.3:p.Thr2049Pro
  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.6562A>C
  hgvsp: ENSP00000334351.5:p.Thr2188Pro
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.833A>C
  hgvsp: ENSP00000463776.1:p.Thr279Pro
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr2062Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

17-65928062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928062
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928062
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
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.6564C>T
  hgvsp: ENST00000321892.4:c.6564C>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.6564C>T
  hgvsp: ENST00000335221.5:c.6564C>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.6147C>T
  hgvsp: ENST00000424123.3:c.6147C>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.6186C>T
  hgvsp: ENST00000306378.6:c.6186C>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.6375C>T
  hgvsp: ENST00000544778.2:c.6375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.835C>T
  hgvsp: ENST00000582467.1:c.835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr2062Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

17-65928063-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928063
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928063
    reference: chr 17
allele count: 4
allele frequency: 3.295870274545994e-5
allele num: 121364
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.6148G>A
  hgvsp: ENSP00000388405.3:p.Val2050Met
  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.6187G>A
  hgvsp: ENSP00000307208.6:p.Val2063Met
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.836G>A
  hgvsp: ENSP00000463776.1:p.Val280Met
  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.6565G>A
  hgvsp: ENSP00000315454.4:p.Val2189Met
  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.6565G>A
  hgvsp: ENSP00000334351.5:p.Val2189Met
  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.6376G>A
  hgvsp: ENSP00000440854.2:p.Val2126Met
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val2063Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

17-65928068-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928068
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928068
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.841T>A
  hgvsp: ENST00000582467.1:c.841T>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.6192T>A
  hgvsp: ENST00000306378.6:c.6192T>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.6570T>A
  hgvsp: ENST00000321892.4:c.6570T>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.6570T>A
  hgvsp: ENST00000335221.5:c.6570T>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.6153T>A
  hgvsp: ENST00000424123.3:c.6153T>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.6381T>A
  hgvsp: ENST00000544778.2:c.6381T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile2064Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-65928079-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928079
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928079
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
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.6392T>A
  hgvsp: ENSP00000440854.2:p.Leu2131His
  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.6581T>A
  hgvsp: ENSP00000315454.4:p.Leu2194His
  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.6581T>A
  hgvsp: ENSP00000334351.5:p.Leu2194His
  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.6164T>A
  hgvsp: ENSP00000388405.3:p.Leu2055His
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.852T>A
  hgvsp: ENSP00000463776.1:p.Leu285His
  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.6203T>A
  hgvsp: ENSP00000307208.6:p.Leu2068His
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu2068His
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

17-65928081-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928081
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928081
    reference: chr 17
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.854C>G
  hgvsp: ENSP00000463776.1:p.Gln286Glu
  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.6583C>G
  hgvsp: ENSP00000315454.4:p.Gln2195Glu
  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.6166C>G
  hgvsp: ENSP00000388405.3:p.Gln2056Glu
  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.6205C>G
  hgvsp: ENSP00000307208.6:p.Gln2069Glu
  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.6583C>G
  hgvsp: ENSP00000334351.5:p.Gln2195Glu
  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.6394C>G
  hgvsp: ENSP00000440854.2:p.Gln2132Glu
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln2069Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

17-65928083-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928083
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928083
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
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.6585A>G
  hgvsp: ENST00000335221.5:c.6585A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.856A>G
  hgvsp: ENST00000582467.1:c.856A>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.6585A>G
  hgvsp: ENST00000321892.4:c.6585A>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.6396A>G
  hgvsp: ENST00000544778.2:c.6396A>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.6168A>G
  hgvsp: ENST00000424123.3:c.6168A>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.6207A>G
  hgvsp: ENST00000306378.6:c.6207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln2069Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

17-65928086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928086
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
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.6399G>A
  hgvsp: ENST00000544778.2:c.6399G>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.6210G>A
  hgvsp: ENST00000306378.6:c.6210G>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.6171G>A
  hgvsp: ENST00000424123.3:c.6171G>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.6588G>A
  hgvsp: ENST00000321892.4:c.6588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.859G>A
  hgvsp: ENST00000582467.1:c.859G>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.6588G>A
  hgvsp: ENST00000335221.5:c.6588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln2070Gln
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-65928105-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928105
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928105
    reference: chr 17
allele count: 13
allele frequency: 1.071122536418166e-4
allele num: 121368
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.6229A>G
  hgvsp: ENSP00000307208.6:p.Ile2077Val
  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.6418A>G
  hgvsp: ENSP00000440854.2:p.Ile2140Val
  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.6190A>G
  hgvsp: ENSP00000388405.3:p.Ile2064Val
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.878A>G
  hgvsp: ENSP00000463776.1:p.Ile294Val
  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.6607A>G
  hgvsp: ENSP00000315454.4:p.Ile2203Val
  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.6607A>G
  hgvsp: ENSP00000334351.5:p.Ile2203Val
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile2077Val
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-65928109-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928109
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928109
    reference: chr 17
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.6194T>C
  hgvsp: ENSP00000388405.3:p.Ile2065Thr
  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.6611T>C
  hgvsp: ENSP00000334351.5:p.Ile2204Thr
  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.6233T>C
  hgvsp: ENSP00000307208.6:p.Ile2078Thr
  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.6422T>C
  hgvsp: ENSP00000440854.2:p.Ile2141Thr
  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.6611T>C
  hgvsp: ENSP00000315454.4:p.Ile2204Thr
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.882T>C
  hgvsp: ENSP00000463776.1:p.Ile295Thr
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile2078Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

17-65928110-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928110
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928110
    reference: chr 17
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000388405
  ensembl transcript: ENST00000424123
  gene symbol: BPTF
  hgvsc: ENST00000424123.3:c.6195T>C
  hgvsp: ENST00000424123.3:c.6195T>C(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.6612T>C
  hgvsp: ENST00000321892.4:c.6612T>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.6423T>C
  hgvsp: ENST00000544778.2:c.6423T>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.6612T>C
  hgvsp: ENST00000335221.5:c.6612T>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.6234T>C
  hgvsp: ENST00000306378.6:c.6234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.883T>C
  hgvsp: ENST00000582467.1:c.883T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile2078Ile
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-65928112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928112
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928112
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000315454
  ensembl transcript: ENST00000321892
  gene symbol: BPTF
  hgvsc: ENST00000321892.4:c.6614G>A
  hgvsp: ENSP00000315454.4:p.Arg2205Gln
  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.6614G>A
  hgvsp: ENSP00000334351.5:p.Arg2205Gln
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.885G>A
  hgvsp: ENSP00000463776.1:p.Arg296Gln
  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.6236G>A
  hgvsp: ENSP00000307208.6:p.Arg2079Gln
  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.6425G>A
  hgvsp: ENSP00000440854.2:p.Arg2142Gln
  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.6197G>A
  hgvsp: ENSP00000388405.3:p.Arg2066Gln
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6659
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg2079Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

17-65928114-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928114
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928114
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
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.6238A>T
  hgvsp: ENSP00000307208.6:p.Thr2080Ser
  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.6616A>T
  hgvsp: ENSP00000315454.4:p.Thr2206Ser
  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.6616A>T
  hgvsp: ENSP00000334351.5:p.Thr2206Ser
  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.6427A>T
  hgvsp: ENSP00000440854.2:p.Thr2143Ser
  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.6199A>T
  hgvsp: ENSP00000388405.3:p.Thr2067Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.887A>T
  hgvsp: ENSP00000463776.1:p.Thr297Ser
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr2080Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

17-65928123-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928123
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928123
    reference: chr 17
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
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.6625A>T
  hgvsp: ENSP00000334351.5:p.Met2209Leu
  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.6625A>T
  hgvsp: ENSP00000315454.4:p.Met2209Leu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.896A>T
  hgvsp: ENSP00000463776.1:p.Met300Leu
  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.6247A>T
  hgvsp: ENSP00000307208.6:p.Met2083Leu
  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.6208A>T
  hgvsp: ENSP00000388405.3:p.Met2070Leu
  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.6436A>T
  hgvsp: ENSP00000440854.2:p.Met2146Leu
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met2083Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-65928126-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928126
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928126
    reference: chr 17
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
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.6628G>C
  hgvsp: ENSP00000334351.5:p.Val2210Leu
  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.6628G>C
  hgvsp: ENSP00000315454.4:p.Val2210Leu
  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.6250G>C
  hgvsp: ENSP00000307208.6:p.Val2084Leu
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.899G>C
  hgvsp: ENSP00000463776.1:p.Val301Leu
  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.6211G>C
  hgvsp: ENSP00000388405.3:p.Val2071Leu
  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.6439G>C
  hgvsp: ENSP00000440854.2:p.Val2147Leu
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val2084Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-65928132-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928132
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928132
    reference: chr 17
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
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.6634C>T
  hgvsp: ENSP00000315454.4:p.Pro2212Ser
  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.6256C>T
  hgvsp: ENSP00000307208.6:p.Pro2086Ser
  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.6634C>T
  hgvsp: ENSP00000334351.5:p.Pro2212Ser
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.905C>T
  hgvsp: ENSP00000463776.1:p.Pro303Ser
  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.6445C>T
  hgvsp: ENSP00000440854.2:p.Pro2149Ser
  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.6217C>T
  hgvsp: ENSP00000388405.3:p.Pro2073Ser
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42805
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro2086Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-65928133-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928133
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928133
    reference: chr 17
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: G
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.6257C>G
  hgvsp: ENSP00000307208.6:p.Pro2086Arg
  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.6635C>G
  hgvsp: ENSP00000334351.5:p.Pro2212Arg
  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.6635C>G
  hgvsp: ENSP00000315454.4:p.Pro2212Arg
  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.6218C>G
  hgvsp: ENSP00000388405.3:p.Pro2073Arg
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.906C>G
  hgvsp: ENSP00000463776.1:p.Pro303Arg
  variant of: http://identifiers.org/hgnc/3581
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.6446C>G
  hgvsp: ENSP00000440854.2:p.Pro2149Arg
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro2086Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-65928142-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928142
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928142
    reference: chr 17
allele count: 2
allele frequency: 1.650764303872693e-5
allele num: 121156
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.6220+7A>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.6448+7A>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.6259+7A>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.6637+7A>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.6637+7A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.908+7A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.25e1
  variant carriers: 0
hgvs: c.6259+7A>G
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

17-65928157-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928157
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928157
    reference: chr 17
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.908+22T>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.6637+22T>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.6637+22T>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.6448+22T>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.6220+22T>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.6259+22T>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-65928167-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928167
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928167
    reference: chr 17
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
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.6448+32T>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.6259+32T>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.6220+32T>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.6637+32T>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.908+32T>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.6637+32T>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35121
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-65928169-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928169
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928169
    reference: chr 17
allele count: 1
allele frequency: 8.327088017320342e-6
allele num: 120090
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000307208
  ensembl transcript: ENST00000306378
  gene symbol: BPTF
  hgvsc: ENST00000306378.6:c.6259+34T>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.6220+34T>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.6637+34T>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.6637+34T>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.6448+34T>C
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.908+34T>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5968
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-65928172-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928172
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928172
    reference: chr 17
allele count: 1336
allele frequency: 1.161254432932341e-2
allele num: 115048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.908+37A>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.6637+37A>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.6259+37A>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.6637+37A>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.6448+37A>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.6220+37A>C
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 3.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 10842
  bin: 2.75e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 32168
  bin: 2.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 1.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 8.25e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 3.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 3.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 5656
  bin: 6.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 32447
  bin: 6.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 2.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 7.75e1
  variant carriers: 60
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/17-65928173-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928173
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928173
    reference: chr 17
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.908+38C>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.6220+38C>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.6637+38C>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.6259+38C>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.6637+38C>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.6448+38C>A
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4984
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32011
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

17-65928181-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928181
    reference: chr 17
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.908+46C>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.6448+46C>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.6259+46C>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.6637+46C>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.6220+46C>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.6637+46C>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

17-65928183-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65928183
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65928183
    reference: chr 17
allele count: 770
allele frequency: 6.398750166201303e-3
allele num: 120336
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.6637+48A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.908+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.6448+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.6259+48A>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.6220+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.6637+48A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29740
  bin: 2.25e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 2.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7853
  bin: 1.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 1.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 3.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5591
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 21
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

17-65936505-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65936505
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65936505
    reference: chr 17
allele count: 2
allele frequency: 2.252049364922079e-5
allele num: 88808
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.6260-50A>T
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.909-50A>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.6638-50A>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.6221-50A>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.6638-50A>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.6449-50A>T
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl transcript: ENST00000577770
  gene symbol: BPTF
  hgvsc: ENST00000577770.1:n.74-50A>T
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20559
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-65936506-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65936506
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65936506
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 88760
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.6260-49A>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.6449-49A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.909-49A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl transcript: ENST00000577770
  gene symbol: BPTF
  hgvsc: ENST00000577770.1:n.74-49A>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.6638-49A>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.6221-49A>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.6638-49A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14296
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

17-65936514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65936514
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65936514
    reference: chr 17
allele count: 6
allele frequency: 6.675864524455917e-5
allele num: 89876
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.6221-41A>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.6638-41A>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.6638-41A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl transcript: ENST00000577770
  gene symbol: BPTF
  hgvsc: ENST00000577770.1:n.74-41A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.909-41A>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.6449-41A>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.6260-41A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19861
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6540
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-65936517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65936517
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65936517
    reference: chr 17
allele count: 9
allele frequency: 9.950468777640191e-5
allele num: 90448
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.6638-38G>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.6638-38G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl transcript: ENST00000577770
  gene symbol: BPTF
  hgvsc: ENST00000577770.1:n.74-38G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.909-38G>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.6260-38G>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.6449-38G>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.6221-38G>A
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14145
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13323
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18748
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5855
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 14885
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-65936522-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65936522
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65936522
    reference: chr 17
allele count: 2
allele frequency: 2.15968727728225e-5
allele num: 92606
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.6221-33A>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.6260-33A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl transcript: ENST00000577770
  gene symbol: BPTF
  hgvsc: ENST00000577770.1:n.74-33A>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.6638-33A>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.6449-33A>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.6638-33A>G
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.909-33A>G
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5025
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-65936526-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65936526
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65936526
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 94252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.909-29G>A
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl transcript: ENST00000577770
  gene symbol: BPTF
  hgvsc: ENST00000577770.1:n.74-29G>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.6638-29G>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.6638-29G>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.6449-29G>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.6260-29G>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.6221-29G>A
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-65936527-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65936527
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65936527
    reference: chr 17
allele count: 1
allele frequency: 1.052698065140956e-5
allele num: 94994
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.6449-28C>T
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl transcript: ENST00000577770
  gene symbol: BPTF
  hgvsc: ENST00000577770.1:n.74-28C>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.6260-28C>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.6638-28C>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.6221-28C>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.6638-28C>T
  variant of: http://identifiers.org/hgnc/3581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171634
  ensembl protein: ENSP00000463776
  ensembl transcript: ENST00000582467
  gene symbol: BPTF
  hgvsc: ENST00000582467.1:c.909-28C>T
  variant of: http://identifiers.org/hgnc/3581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12500
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 689
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46636
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2793
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.350175522817966e-4
allele num: 66658
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
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: 5
allele frequency: 5.783021050196623e-4
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

MQ
type: SiteQuality
SIO_000300: 5.847e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.154e1

VQSLOD
type: SiteQuality
SIO_000300: -3.819e-1

FS
type: SiteQuality
SIO_000300: 1.188e0

DP
type: SiteQuality
SIO_000300: 1.742532e6

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

European (Finnish)
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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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European (Non-Finnish)
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allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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QD
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -3.021e0

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

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

South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499430216517723e-5
allele num: 66692
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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QD
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.184033177812338e-4
allele num: 11574
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

Other
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66730
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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DP
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MQRankSum
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FS
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MQ
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
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 count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66732
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 9.613535858488752e-5
allele num: 10402
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South Asian
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MQ
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SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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Other
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European (Non-Finnish)
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East Asian
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allele num: 8646
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DP
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

Latino
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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FS
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QD
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ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Other
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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East Asian
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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FS
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
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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
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8638
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.966e-1

DP
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

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

FS
type: SiteQuality
SIO_000300: 4.884e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8640
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
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FS
type: SiteQuality
SIO_000300: 2.356e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
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SIO_000300: 1.741005e6

BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
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SIO_000300: 1.149e1

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

European (Non-Finnish)
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allele count: 23
allele frequency: 3.45044855831258e-4
allele num: 66658
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.335761359694763e-4
allele num: 11532
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.636363636363636e-4
allele num: 16500
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

InbreedingCoeff
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SIO_000300: 2.15e-2

ClippingRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.922e1

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 3.41e0

VQSLOD
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QD
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SIO_000300: 1.431e1

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

DP
type: SiteQuality
SIO_000300: 1.740519e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.734116e6

QD
type: SiteQuality
SIO_000300: 7.85e0

FS
type: SiteQuality
SIO_000300: 1.0772e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.291e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

South Asian
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allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.805e0

FS
type: SiteQuality
SIO_000300: 2.222e0

VQSLOD
type: SiteQuality
SIO_000300: 2.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.167e1

DP
type: SiteQuality
SIO_000300: 1.72957e6

MQRankSum
type: SiteQuality
SIO_000300: -9.99e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.526662039412137e-5
allele num: 66274
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.651e0

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

QD
type: SiteQuality
SIO_000300: 1.554e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.726776e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

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

Other
type: Population
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16418
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.208057745160219e-4
allele num: 66222
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10336
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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FS
type: SiteQuality
SIO_000300: 6.098e0

BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

DP
type: SiteQuality
SIO_000300: 1.724773e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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East Asian
type: Population
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allele frequency: 1.168224299065421e-4
allele num: 8560
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Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -1.352e0

DP
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QD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.047386865762609e-5
allele num: 65630
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Latino
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East Asian
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MQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.523879186858066e-5
allele num: 65622
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African
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
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MQ
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DP
type: SiteQuality
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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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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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529285823520416e-5
allele num: 65390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.694818e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 1.669e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 1.565e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
all individuals: 995
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 1013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 2674
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variant carriers: 2

GenotypeQuality
all individuals: 110
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.105879429760537e-5
allele num: 64394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

FS
type: SiteQuality
SIO_000300: 9.728e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

DP
type: SiteQuality
SIO_000300: 1.657518e6

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.222e1

VQSLOD
type: SiteQuality
SIO_000300: -1.052e0

GenotypeQuality
all individuals: 262
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 236
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GenotypeQuality
all individuals: 332
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657000828500414e-5
allele num: 60350
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

DP
type: SiteQuality
SIO_000300: 1.449533e6

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.742e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

FS
type: SiteQuality
SIO_000300: 1.726e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
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variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.582411795681937e-5
allele num: 15192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59318
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.851e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.785e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.375337e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 434
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2670
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 171
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
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variant carriers: 0

GenotypeQuality
all individuals: 4161
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2404
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9358
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.11999152003392e-4
allele num: 9434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7270
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.741270055278414e-5
allele num: 14834
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.481389578163772e-3
allele num: 806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.742646033737627e-4
allele num: 57384
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

QD
type: SiteQuality
SIO_000300: 1.511e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

FS
type: SiteQuality
SIO_000300: 2.406e0

DP
type: SiteQuality
SIO_000300: 1.222765e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

GenotypeQuality
all individuals: 413
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5706
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
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variant carriers: 0

GenotypeQuality
all individuals: 595
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variant carriers: 0

GenotypeQuality
all individuals: 229
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GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.77708274097242e-5
allele num: 56272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.721e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

DP
type: SiteQuality
SIO_000300: 1.150182e6

VQSLOD
type: SiteQuality
SIO_000300: -3.44e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

FS
type: SiteQuality
SIO_000300: 7.104e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

GenotypeQuality
all individuals: 2658
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 550
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variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12026
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.608154429009562e-5
allele num: 55430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.459e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

FS
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

DP
type: SiteQuality
SIO_000300: 1.113175e6

GenotypeQuality
all individuals: 239
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2654
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1887
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6044
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.016225551226957e-5
allele num: 49798
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

DP
type: SiteQuality
SIO_000300: 1.001112e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

QD
type: SiteQuality
SIO_000300: 1.435e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 3120
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1627
bin: 5.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7780
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 1.534919416730622e-3
allele num: 5212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.806e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

DP
type: SiteQuality
SIO_000300: 9.84261e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3455
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6423
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variant carriers: 0

GenotypeQuality
all individuals: 5857
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3212
bin: 9.75e1
variant carriers: 6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10540
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.947019867549669e-4
allele num: 7550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61136
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

FS
type: SiteQuality
SIO_000300: 3.33e0

DP
type: SiteQuality
SIO_000300: 1.252079e6

QD
type: SiteQuality
SIO_000300: 1.601e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

GenotypeQuality
all individuals: 4076
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13259
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variant carriers: 0

GenotypeQuality
all individuals: 4501
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variant carriers: 0

GenotypeQuality
all individuals: 1231
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variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62999185004075e-5
allele num: 61350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15534
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 1.824e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

DP
type: SiteQuality
SIO_000300: 1.262919e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
all individuals: 4598
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1669
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.262429857758058e-5
allele num: 61304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 1.291146e6

VQSLOD
type: SiteQuality
SIO_000300: -5.286999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

GenotypeQuality
all individuals: 1944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3251
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2701
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63662
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.025931928687196e-4
allele num: 9872
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.117734724292101e-3
allele num: 8052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10958
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.079e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

FS
type: SiteQuality
SIO_000300: 2.931e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 1.470611e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

QD
type: SiteQuality
SIO_000300: 1.555e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

GenotypeQuality
all individuals: 6262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.239310943115628e-4
allele num: 16138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64860
num of homozygotes: 0

European (Finnish)
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: 10052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 1.1722e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.108e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 1.511624e6

VQSLOD
type: SiteQuality
SIO_000300: -1.236e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

GenotypeQuality
all individuals: 735
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533601202343343e-5
allele num: 65206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e0

QD
type: SiteQuality
SIO_000300: 1.801e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.347e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: -1.125e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
SIO_000300: 1.520878e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.654e0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3247
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 152
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65854
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.133464180569185e-5
allele num: 16304
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.505e0

DP
type: SiteQuality
SIO_000300: 1.536732e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.637e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017319413433106e-5
allele num: 66284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.547916e6

MQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.072e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.736e0

FS
type: SiteQuality
SIO_000300: 4.026e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 748
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.239e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.07e-1

FS
type: SiteQuality
SIO_000300: 1.284e0

DP
type: SiteQuality
SIO_000300: 1.558773e6

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 3.503e1

VQSLOD
type: SiteQuality
SIO_000300: -4.395e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 603
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2518
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 11558
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.240368306275745e-4
allele num: 16508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.191e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 2.398e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.560888e6

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.493555542233679e-5
allele num: 66724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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

QD
type: SiteQuality
SIO_000300: 1.435e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

FS
type: SiteQuality
SIO_000300: 3.609e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.561281e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 604
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.561089e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.159e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.38e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.746e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1573
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6661
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
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 count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.405e1

ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 7.185e0

BaseQRankSum
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SIO_000300: 4.97e0

VQSLOD
type: SiteQuality
SIO_000300: 5.34e-1

MQ
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SIO_000300: 6.0e1

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

DP
type: SiteQuality
SIO_000300: 1.561125e6

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Latino
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allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

MQRankSum
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SIO_000300: 1.36e-1

VQSLOD
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QD
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MQ
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DP
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SIO_000300: 1.561318e6

ClippingRankSum
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SIO_000300: -2.82e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

MQ
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.23e0

VQSLOD
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FS
type: SiteQuality
SIO_000300: 6.67e0

MQRankSum
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SIO_000300: -1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

QD
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SIO_000300: 1.499e1

GenotypeQuality
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variant carriers: 0

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

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

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

Other
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allele count: 0
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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

MQRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.867e1

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: 5.85e-1

BaseQRankSum
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DP
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FS
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QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 11562
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.561281e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

QD
type: SiteQuality
SIO_000300: 2.709e1

FS
type: SiteQuality
SIO_000300: 9.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.543e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

European (Finnish)
type: Population
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: 10402
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.889e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.32e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.561287e6

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.79829162295819e-4
allele num: 66730
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African
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allele frequency: 9.613535858488752e-5
allele num: 10402
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VQSLOD
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 906
num of homozygotes: 0

East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele num: 66728
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African
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QD
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
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: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.275e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 9.4e0

MQ
type: SiteQuality
SIO_000300: 5.86e1

VQSLOD
type: SiteQuality
SIO_000300: -1.717e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

DP
type: SiteQuality
SIO_000300: 1.56094e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
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

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: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.257e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.837e-1

DP
type: SiteQuality
SIO_000300: 1.560935e6

MQRankSum
type: SiteQuality
SIO_000300: -1.376e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

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

GenotypeQuality
all individuals: 2091
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3266
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
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: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.174e0

QD
type: SiteQuality
SIO_000300: 1.247e1

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

DP
type: SiteQuality
SIO_000300: 1.56039e6

GenotypeQuality
all individuals: 2087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6616
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 2.833e0

MQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

DP
type: SiteQuality
SIO_000300: 1.559633e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

GenotypeQuality
all individuals: 601
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 16500
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: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.558799e6

QD
type: SiteQuality
SIO_000300: 1.757e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.269e0

FS
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: -6.881e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.244e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.093e0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1568
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42780
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6607
bin: 6.75e1
variant carriers: 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: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.178e-1

DP
type: SiteQuality
SIO_000300: 1.558623e6

FS
type: SiteQuality
SIO_000300: 1.425e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.486e0

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6587
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 9.824999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.554419e6

GenotypeQuality
all individuals: 599
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.436e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.536469e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

QD
type: SiteQuality
SIO_000300: 1.613e1

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

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

GenotypeQuality
all individuals: 1490
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510072181450273e-5
allele num: 66222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.06e-1

QD
type: SiteQuality
SIO_000300: 6.89e0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.51461e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.53e-1

GenotypeQuality
all individuals: 678
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2449
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513592056668887e-5
allele num: 66068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e0

QD
type: SiteQuality
SIO_000300: 6.02e0

VQSLOD
type: SiteQuality
SIO_000300: -1.857e0

DP
type: SiteQuality
SIO_000300: 1.507968e6

GenotypeQuality
all individuals: 1186
bin: 4.75e1
variant carriers: 51

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 57

GenotypeQuality
all individuals: 905
bin: 2.75e1
variant carriers: 18

GenotypeQuality
all individuals: 522
bin: 5.25e1
variant carriers: 42

GenotypeQuality
all individuals: 337
bin: 5.75e1
variant carriers: 52

GenotypeQuality
all individuals: 3393
bin: 9.75e1
variant carriers: 663

GenotypeQuality
all individuals: 699
bin: 9.25e1
variant carriers: 54

European (Finnish)
type: Population
allele count: 265
allele frequency: 4.618333914255839e-2
allele num: 5738
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 2.299257163070393e-3
allele num: 11308
num of homozygotes: 0

African
type: Population
allele count: 192
allele frequency: 2.08378554373779e-2
allele num: 9214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 802
allele frequency: 1.271804630510625e-2
allele num: 63060
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.82370820668693e-4
allele num: 16450
num of homozygotes: 0

Other
type: Population
allele count: 16
allele frequency: 1.965601965601966e-2
allele num: 814
num of homozygotes: 0

East Asian
type: Population
allele count: 32
allele frequency: 3.780718336483932e-3
allele num: 8464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.505e0

QD
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.44e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.535e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 1.0778e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.522416e6

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.168e0

DP
type: SiteQuality
SIO_000300: 1.545383e6

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

QD
type: SiteQuality
SIO_000300: 1.169e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4985
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1008
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.804366966015144e-5
allele num: 11358
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66198
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.529111e6

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

GenotypeQuality
all individuals: 23310
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2015
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1681
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 5625
bin: 9.75e1
variant carriers: 727

GenotypeQuality
all individuals: 3220
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 5
allele frequency: 5.580357142857143e-3
allele num: 896
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
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: 78
allele frequency: 6.871035940803382e-3
allele num: 11352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 70
allele frequency: 1.056954762336172e-3
allele num: 66228
num of homozygotes: 0

African
type: Population
allele count: 616
allele frequency: 5.975941016686069e-2
allele num: 10308
num of homozygotes: 20

BaseQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.54e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.532624e6

QD
type: SiteQuality
SIO_000300: 1.567e1

GenotypeQuality
all individuals: 2864
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8876
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5470
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7115
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.127455836222553e-5
allele num: 48456
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12922
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.82e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.791e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.63954e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.405e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
all individuals: 3052
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8842
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.612e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 9.66081e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.629e1

GenotypeQuality
all individuals: 11895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8630
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1859
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5108
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.545595054095827e-4
allele num: 6470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.840245775729647e-4
allele num: 13020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49074
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.00739e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e0

QD
type: SiteQuality
SIO_000300: 1.219e1

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.206110962208523e-3
allele num: 7462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49394
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

DP
type: SiteQuality
SIO_000300: 1.031965e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.688e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeQuality
all individuals: 135
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2200
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4798
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variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50690
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13244
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.399808015358771e-4
allele num: 8334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

FS
type: SiteQuality
SIO_000300: 1.0023e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.117e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 1.077858e6

GenotypeQuality
all individuals: 6266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
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variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13063
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.15e-1

DP
type: SiteQuality
SIO_000300: 1.123986e6

FS
type: SiteQuality
SIO_000300: 3.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 8.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0