http://identifiers.org/exac.variant/11-82868604-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868604
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868604
    reference: chr 11
allele count: 1
allele frequency: 8.305509875251242e-6
allele num: 120402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.123C>A
  hgvsp: ENST00000533018.1:c.123C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.123C>A
  hgvsp: ENST00000530304.1:c.123C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.123C>A
  hgvsp: ENST00000298281.4:c.123C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.123C>A
  hgvsp: ENST00000530660.1:c.123C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5676
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr41Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/11-82868610-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868610
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868610
    reference: chr 11
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.129A>C
  hgvsp: ENST00000530304.1:c.129A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.129A>C
  hgvsp: ENST00000530660.1:c.129A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.129A>C
  hgvsp: ENST00000298281.4:c.129A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.129A>C
  hgvsp: ENST00000533018.1:c.129A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8495
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu43Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

11-82868610-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868610
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868610
    reference: chr 11
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.129A>G
  hgvsp: ENST00000530304.1:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.129A>G
  hgvsp: ENST00000533018.1:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.129A>G
  hgvsp: ENST00000530660.1:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.129A>G
  hgvsp: ENST00000298281.4:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8495
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4683
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu43Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

11-82868623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868623
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868623
    reference: chr 11
allele count: 1
allele frequency: 8.300959590928711e-6
allele num: 120468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.142C>T
  hgvsp: ENST00000533018.1:c.142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.142C>T
  hgvsp: ENST00000298281.4:c.142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.142C>T
  hgvsp: ENST00000530660.1:c.142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.142C>T
  hgvsp: ENST00000530304.1:c.142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu48Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

11-82868626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868626
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868626
    reference: chr 11
allele count: 1
allele frequency: 8.300546175938376e-6
allele num: 120474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.145C>T
  hgvsp: ENSP00000431567.1:p.Pro49Ser
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.145C>T
  hgvsp: ENSP00000434540.1:p.Pro49Ser
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.145C>T
  hgvsp: ENSP00000436806.1:p.Pro49Ser
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.145C>T
  hgvsp: ENSP00000298281.4:p.Pro49Ser
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5678
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro49Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

11-82868627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868627
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868627
    reference: chr 11
allele count: 2
allele frequency: 1.66008167601846e-5
allele num: 120476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.146C>T
  hgvsp: ENSP00000434540.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.146C>T
  hgvsp: ENSP00000436806.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.146C>T
  hgvsp: ENSP00000431567.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.146C>T
  hgvsp: ENSP00000298281.4:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5679
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro49Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

11-82868628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868628
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868628
    reference: chr 11
allele count: 5
allele frequency: 4.150410890678177e-5
allele num: 120470
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.147C>T
  hgvsp: ENST00000298281.4:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.147C>T
  hgvsp: ENST00000530660.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.147C>T
  hgvsp: ENST00000533018.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.147C>T
  hgvsp: ENST00000530304.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8503
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro49Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-82868634-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868634
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868634
    reference: chr 11
allele count: 1
allele frequency: 8.301510874979247e-6
allele num: 120460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.153C>A
  hgvsp: ENST00000533018.1:c.153C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.153C>A
  hgvsp: ENST00000530660.1:c.153C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.153C>A
  hgvsp: ENST00000530304.1:c.153C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.153C>A
  hgvsp: ENST00000298281.4:c.153C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala51Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

11-82868650-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868650
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868650
    reference: chr 11
allele count: 2
allele frequency: 1.661046791688122e-5
allele num: 120406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.169C>G
  hgvsp: ENSP00000436806.1:p.Leu57Val
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.169C>G
  hgvsp: ENSP00000431567.1:p.Leu57Val
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.169C>G
  hgvsp: ENSP00000298281.4:p.Leu57Val
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.169C>G
  hgvsp: ENSP00000434540.1:p.Leu57Val
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu57Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

11-82868667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868667
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868667
    reference: chr 11
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.186C>T
  hgvsp: ENST00000530304.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.186C>T
  hgvsp: ENST00000533018.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.186C>T
  hgvsp: ENST00000530660.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.186C>T
  hgvsp: ENST00000298281.4:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr62Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

11-82868668-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868668
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868668
    reference: chr 11
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.187G>A
  hgvsp: ENSP00000298281.4:p.Ala63Thr
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.187G>A
  hgvsp: ENSP00000434540.1:p.Ala63Thr
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.187G>A
  hgvsp: ENSP00000436806.1:p.Ala63Thr
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.187G>A
  hgvsp: ENSP00000431567.1:p.Ala63Thr
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 66
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 409
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3408
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3627
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4676
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala63Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

11-82868670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868670
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868670
    reference: chr 11
allele count: 1
allele frequency: 8.313519445321983e-6
allele num: 120286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.189C>T
  hgvsp: ENST00000533018.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.189C>T
  hgvsp: ENST00000530304.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.189C>T
  hgvsp: ENST00000298281.4:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.189C>T
  hgvsp: ENST00000530660.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala63Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

11-82868683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868683
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868683
    reference: chr 11
allele count: 1
allele frequency: 8.332500083325001e-6
allele num: 120012
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+10C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+10C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+10C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+10C>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29468
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

11-82868685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868685
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868685
    reference: chr 11
allele count: 1
allele frequency: 8.334305668994715e-6
allele num: 119986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+12C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+12C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+12C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+12C>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8432
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 207
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29439
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

11-82868688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868688
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868688
    reference: chr 11
allele count: 1
allele frequency: 8.338753523123364e-6
allele num: 119922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+15C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+15C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+15C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+15C>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 374
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26796
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

11-82868689-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868689
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868689
    reference: chr 11
allele count: 2
allele frequency: 1.66858554003771e-5
allele num: 119862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+16G>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+16G>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+16G>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+16G>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1555
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-82868690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868690
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868690
    reference: chr 11
allele count: 2
allele frequency: 1.668529858341815e-5
allele num: 119866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+17C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+17C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+17C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+17C>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

11-82868692-GCCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868692
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868689
    reference: chr 11
allele count: 2
allele frequency: 1.668836153666433e-5
allele num: 119844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+23_192+25delCCT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+23_192+25delCCT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+23_192+25delCCT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+23_192+25delCCT
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5692
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: GCCT
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

11-82868694-CTCCTATTACTTCTAAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868694
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868678
    reference: chr 11
allele count: 1
allele frequency: 8.347942232239753e-6
allele num: 119790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28647
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: CTCCTATTACTTCTAAT
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

11-82868701-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868701
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868701
    reference: chr 11
allele count: 3
allele frequency: 2.507438734913577e-5
allele num: 119644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+28T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+28T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+28T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+28T>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5694
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

11-82868706-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868706
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868706
    reference: chr 11
allele count: 1
allele frequency: 8.365960579593749e-6
allele num: 119532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+33C>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+33C>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+33C>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+33C>G
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/11-82868706-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868706
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868706
    reference: chr 11
allele count: 4
allele frequency: 3.3463842318375e-5
allele num: 119532
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+33C>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+33C>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+33C>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+33C>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26903
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5701
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

11-82868706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868706
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868706
    reference: chr 11
allele count: 2
allele frequency: 1.67319211591875e-5
allele num: 119532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+33C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+33C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+33C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+33C>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5701
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum

11-82868711-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868711
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868711
    reference: chr 11
allele count: 1
allele frequency: 8.371142995864656e-6
allele num: 119458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+38A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+38A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+38A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+38A>G
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-82868715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868715
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868715
    reference: chr 11
allele count: 23
allele frequency: 1.927137446794249e-4
allele num: 119348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+42C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+42C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+42C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+42C>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25743
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

11-82868716-C-CTGATTTTAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868716
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868725
    reference: chr 11
allele count: 1
allele frequency: 8.380684199058012e-6
allele num: 119322
alternate allele: CTGATTTTAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5713
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-82868716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868716
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868716
    reference: chr 11
allele count: 1
allele frequency: 8.380684199058012e-6
allele num: 119322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+43C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+43C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+43C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+43C>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-82868721-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82868721
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82868721
    reference: chr 11
allele count: 1
allele frequency: 8.389684044498884e-6
allele num: 119194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.192+48T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.192+48T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.192+48T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.192+48T>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5717
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

11-82872319-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872319
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872318
    reference: chr 11
allele count: 4
allele frequency: 3.522118906734291e-5
allele num: 113568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-49delA
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2401delA
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-49delA
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-49delA
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8519
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: TA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

11-82872320-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872320
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872320
    reference: chr 11
allele count: 4
allele frequency: 3.524974443935281e-5
allele num: 113476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-49A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2401A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-49A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-49A>G
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15600
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4513
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-82872325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872325
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872325
    reference: chr 11
allele count: 1
allele frequency: 8.799408679736721e-6
allele num: 113644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-44G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-44G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2396G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-44G>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

11-82872328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872328
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872328
    reference: chr 11
allele count: 1
allele frequency: 8.798015167778149e-6
allele num: 113662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2393G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-41G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-41G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-41G>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21305
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30440
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

11-82872330-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872330
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872330
    reference: chr 11
allele count: 1
allele frequency: 8.779014643396425e-6
allele num: 113908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-39A>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-39A>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-39A>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2391A>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

11-82872333-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872333
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872333
    reference: chr 11
allele count: 32
allele frequency: 2.804262478968031e-4
allele num: 114112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-36T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2388T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-36T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-36T>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13041
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24552
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4625
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

11-82872336-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872336
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872336
    reference: chr 11
allele count: 2
allele frequency: 1.750945510575711e-5
allele num: 114224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-33T>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-33T>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-33T>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2385T>G
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

11-82872339-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872339
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872339
    reference: chr 11
allele count: 2
allele frequency: 1.749138549264487e-5
allele num: 114342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2382T>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-30T>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-30T>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-30T>C
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27373
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-82872345-ACTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872345
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872342
    reference: chr 11
allele count: 1
allele frequency: 8.69837514352319e-6
allele num: 114964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-21_193-19delTCT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-21_193-19delTCT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-21_193-19delTCT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2373_193-2371delTCT
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 13910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: ACTT
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

11-82872348-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872348
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872348
    reference: chr 11
allele count: 10
allele frequency: 8.679199430644518e-5
allele num: 115218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-21T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-21T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2373T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-21T>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30320
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

11-82872349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872349
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872349
    reference: chr 11
allele count: 1
allele frequency: 8.671071571024747e-6
allele num: 115326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-20C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-20C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-20C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2372C>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

11-82872350-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872350
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872350
    reference: chr 11
allele count: 1
allele frequency: 8.6629589202488e-6
allele num: 115434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2371T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-19T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-19T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-19T>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30834
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-82872360-TTTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872360
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872357
    reference: chr 11
allele count: 1
allele frequency: 8.580303056303948e-6
allele num: 116546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.193-6_193-4delATT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.193-6_193-4delATT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.193-6_193-4delATT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2358_193-2356delATT
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32627
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
hgvs: c.193-6_193-4delATT
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: TTTA
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-82872380-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872380
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872380
    reference: chr 11
allele count: 1
allele frequency: 8.495310588555118e-6
allele num: 117712
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.204A>C
  hgvsp: ENST00000298281.4:c.204A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.204A>C
  hgvsp: ENST00000530304.1:c.204A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.204A>C
  hgvsp: ENST00000530660.1:c.204A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2341A>C
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser68Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

11-82872386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872386
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872386
    reference: chr 11
allele count: 1
allele frequency: 8.510928031592565e-6
allele num: 117496
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.210G>A
  hgvsp: ENST00000298281.4:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.210G>A
  hgvsp: ENST00000530660.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.210G>A
  hgvsp: ENST00000530304.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2335G>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5039
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys70Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

11-82872416-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872416
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872416
    reference: chr 11
allele count: 1
allele frequency: 8.743092956564315e-6
allele num: 114376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.240T>C
  hgvsp: ENST00000530304.1:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.240T>C
  hgvsp: ENST00000530660.1:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2305T>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.240T>C
  hgvsp: ENST00000298281.4:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15877
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile80Ile
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

11-82872432-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872432
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872432
    reference: chr 11
allele count: 1
allele frequency: 9.099346666909316e-6
allele num: 109898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.256A>G
  hgvsp: ENSP00000431567.1:p.Arg86Gly
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2289A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.256A>G
  hgvsp: ENSP00000298281.4:p.Arg86Gly
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.256A>G
  hgvsp: ENSP00000434540.1:p.Arg86Gly
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8797
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg86Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

11-82872455-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872455
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872455
    reference: chr 11
allele count: 1
allele frequency: 9.859016070196194e-6
allele num: 101430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.279T>C
  hgvsp: ENST00000530304.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.279T>C
  hgvsp: ENST00000530660.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.279T>C
  hgvsp: ENST00000298281.4:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2266T>C
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr93Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

11-82872464-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872464
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872464
    reference: chr 11
allele count: 6
allele frequency: 6.082355087890031e-5
allele num: 98646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.288A>G
  hgvsp: ENST00000530304.1:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.288A>G
  hgvsp: ENST00000530660.1:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.288A>G
  hgvsp: ENST00000298281.4:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2257A>G
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10877
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16643
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu96Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

11-82872464-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872464
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872464
    reference: chr 11
allele count: 3
allele frequency: 3.041177543945015e-5
allele num: 98646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.288A>T
  hgvsp: ENST00000530304.1:c.288A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.288A>T
  hgvsp: ENST00000298281.4:c.288A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2257A>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.288A>T
  hgvsp: ENST00000530660.1:c.288A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu96Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ

11-82872485-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872485
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872485
    reference: chr 11
allele count: 1
allele frequency: 1.113784193174731e-5
allele num: 89784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.309G>C
  hgvsp: ENST00000530660.1:c.309G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.309G>C
  hgvsp: ENST00000298281.4:c.309G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2236G>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.309G>C
  hgvsp: ENST00000530304.1:c.309G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val103Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-82872497-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872497
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872496
    reference: chr 11
allele count: 1
allele frequency: 1.176498270547542e-5
allele num: 84998
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+4delC
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+4delC
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+4delC
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2223delC
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
hgvs: c.318+4delC
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AC
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-82872499-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872499
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872499
    reference: chr 11
allele count: 1
allele frequency: 1.202038657563227e-5
allele num: 83192
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+5A>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+5A>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+5A>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2222A>C
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 176
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 519
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 10526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
hgvs: c.318+5A>C
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-82872503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872503
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872503
    reference: chr 11
allele count: 2
allele frequency: 2.460629921259842e-5
allele num: 81280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+9G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2218G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+9G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+9G>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19740
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 176
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/11-82872505-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872505
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872505
    reference: chr 11
allele count: 1
allele frequency: 1.309517573725839e-5
allele num: 76364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+11A>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+11A>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2216A>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+11A>C
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

11-82872511-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872511
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872511
    reference: chr 11
allele count: 2
allele frequency: 2.686511028127771e-5
allele num: 74446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2210A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+17A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+17A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+17A>G
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18830
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

11-82872514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872514
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872514
    reference: chr 11
allele count: 1
allele frequency: 1.389429222475407e-5
allele num: 71972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2207C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+20C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+20C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+20C>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18472
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD

11-82872521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872521
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872521
    reference: chr 11
allele count: 3
allele frequency: 5.561116672227784e-5
allele num: 53946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2200G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+27G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+27G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+27G>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20276
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16443
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9675
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

11-82872521-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872521
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872522
    reference: chr 11
allele count: 40
allele frequency: 7.414822229637045e-4
allele num: 53946
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2191dupT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+36dupT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+36dupT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+36dupT
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20276
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16443
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 20242
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9675
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 2.75e1
  variant carriers: 6
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

11-82872521-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872521
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872521
    reference: chr 11
allele count: 1
allele frequency: 1.853705557409261e-5
allele num: 53946
alternate allele: T
canonical: false
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9675
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3054
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9784
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5540
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 440
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

11-82872521-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872521
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872520
    reference: chr 11
allele count: 34
allele frequency: 6.302598895191488e-4
allele num: 53946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+36delT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+36delT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2191delT
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+36delT
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.5e0
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16443
  bin: 1.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20276
  bin: 7.5e0
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 2.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 2.5e0
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 1.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9675
  bin: 7.5e0
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 1.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 4.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.25e1
  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: GT
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

11-82872529-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872529
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872529
    reference: chr 11
allele count: 18
allele frequency: 3.292723081988805e-4
allele num: 54666
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+35T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+35T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2192T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+35T>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9906
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14613
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21589
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5352
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11506
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
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: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

11-82872530-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872530
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872530
    reference: chr 11
allele count: 5881
allele frequency: 1.156084136033025e-1
allele num: 50870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+36T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+36T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2191T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+36T>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 1.75e1
  variant carriers: 953
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 2.25e1
  variant carriers: 503
genotype depth: GenotypeDepth
  all individuals: 22705
  bin: 7.5e0
  variant carriers: 3912
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 2.75e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 14083
  bin: 1.25e1
  variant carriers: 2467
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 2.5e0
  variant carriers: 652
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 6.75e1
  variant carriers: 354
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 2.75e1
  variant carriers: 249
genotype quality: GenotypeQuality
  all individuals: 16549
  bin: 2.25e1
  variant carriers: 313
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.25e1
  variant carriers: 204
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.25e1
  variant carriers: 348
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 2.5e0
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 7026
  bin: 9.75e1
  variant carriers: 4591
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.75e1
  variant carriers: 206
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 6.25e1
  variant carriers: 417
genotype quality: GenotypeQuality
  all individuals: 10510
  bin: 7.5e0
  variant carriers: 189
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 3.25e1
  variant carriers: 313
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 438
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 1.25e1
  variant carriers: 158
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 1.75e1
  variant carriers: 320
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.25e1
  variant carriers: 375
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.25e1
  variant carriers: 268
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.75e1
  variant carriers: 253
num of homozygotes: 554
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

11-82872530-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872530
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872531
    reference: chr 11
allele count: 3
allele frequency: 5.897385492431689e-5
allele num: 50870
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2185dupA
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+42dupA
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+42dupA
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+42dupA
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 2.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14083
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22705
  bin: 7.5e0
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16549
  bin: 2.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 10510
  bin: 7.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7026
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 2.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 1.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

11-82872531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872531
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872531
    reference: chr 11
allele count: 1
allele frequency: 2.012396361587378e-5
allele num: 49692
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+37A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+37A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+37A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2190A>G
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4914
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12638
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

11-82872531-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872531
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872531
    reference: chr 11
allele count: 274
allele frequency: 5.513966030749416e-3
allele num: 49692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+37A>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+37A>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2190A>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+37A>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22342
  bin: 7.5e0
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14036
  bin: 1.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 1.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11160
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12638
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 19422
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 6.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4914
  bin: 1.25e1
  variant carriers: 4
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

11-82872536-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872536
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872536
    reference: chr 11
allele count: 1
allele frequency: 2.098635886673662e-5
allele num: 47650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2185A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+42A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+42A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+42A>G
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12489
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5565
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13041
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

11-82872540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872540
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872540
    reference: chr 11
allele count: 1
allele frequency: 2.249820014398848e-5
allele num: 44448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+46G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2181G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+46G>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+46G>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11358
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12787
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6713
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8091
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

11-82872544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82872544
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82872544
    reference: chr 11
allele count: 1
allele frequency: 2.356156637293247e-5
allele num: 42442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-2177C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.318+50C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.318+50C>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.318+50C>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10385
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6782
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/11-82874680-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82874680
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82874680
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 11438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.319-41A>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-41A>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.319-41A>C
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.319-41A>C
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12850
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38022
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4367
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31702
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-82874680-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82874680
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82874680
    reference: chr 11
allele count: 2
allele frequency: 1.748557440111908e-4
allele num: 11438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-41A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.319-41A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.319-41A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.319-41A>G
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38022
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12850
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 31702
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 920
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4367
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

11-82874689-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82874689
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82874689
    reference: chr 11
allele count: 3
allele frequency: 2.258355916892502e-4
allele num: 13284
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.319-32T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-32T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.319-32T>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.319-32T>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 424
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25989
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/11-82874692-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82874692
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82874692
    reference: chr 11
allele count: 9
allele frequency: 6.704410011918951e-4
allele num: 13424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.319-29C>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.319-29C>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.319-29C>A
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-29C>A
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22049
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

11-82874693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82874693
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82874693
    reference: chr 11
allele count: 1
allele frequency: 6.138735420503377e-5
allele num: 16290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.319-28A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.319-28A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-28A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.319-28A>G
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 28095
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-82874698-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82874698
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82874698
    reference: chr 11
allele count: 4
allele frequency: 2.144082332761578e-4
allele num: 18656
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.319-23A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-23A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.319-23A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.319-23A>G
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34213
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
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genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 3
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

11-82874700-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82874700
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82874700
    reference: chr 11
allele count: 1
allele frequency: 5.123475765959627e-5
allele num: 19518
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.319-21A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-21A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.319-21A>G
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.319-21A>G
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35340
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
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  variant carriers: 0
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

11-82874706-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82874706
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 82874706
    reference: chr 11
allele count: 1
allele frequency: 4.518752824220515e-5
allele num: 22130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000434540
  ensembl transcript: ENST00000530660
  gene symbol: PCF11
  hgvsc: ENST00000530660.1:c.319-15G>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000431567
  ensembl transcript: ENST00000530304
  gene symbol: PCF11
  hgvsc: ENST00000530304.1:c.319-15G>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000298281
  ensembl transcript: ENST00000298281
  gene symbol: PCF11
  hgvsc: ENST00000298281.4:c.319-15G>T
  variant of: http://identifiers.org/hgnc/30097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165494
  ensembl protein: ENSP00000436806
  ensembl transcript: ENST00000533018
  gene symbol: PCF11
  hgvsc: ENST00000533018.1:c.193-15G>T
  variant of: http://identifiers.org/hgnc/30097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37642
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10678
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.595e0

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: -9.054e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.637133e6

QD
type: SiteQuality
SIO_000300: 1.344e1

GenotypeQuality
all individuals: 1557
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5677
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504347564461293e-5
allele num: 66474
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.741e0

QD
type: SiteQuality
SIO_000300: 1.358e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e0

DP
type: SiteQuality
SIO_000300: 1.637738e6

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.24e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 30472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5677
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02291325695581e-4
allele num: 9776
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: 11566
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.24e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e0

DP
type: SiteQuality
SIO_000300: 1.637738e6

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.741e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.594e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.202e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

DP
type: SiteQuality
SIO_000300: 1.637937e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
all individuals: 179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4686
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
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: 892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e0

DP
type: SiteQuality
SIO_000300: 1.637968e6

QD
type: SiteQuality
SIO_000300: 1.005e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4685
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007157033740302e-5
allele num: 66508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
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: 11564
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.638131e6

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 2.432e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.909e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.836e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4683
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5681
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3624
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511006856730422e-5
allele num: 66504
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.045408058907752e-4
allele num: 9778
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

DP
type: SiteQuality
SIO_000300: 1.638814e6

FS
type: SiteQuality
SIO_000300: 1.739e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.776e0

GenotypeQuality
all individuals: 5681
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3625
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8502
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

FS
type: SiteQuality
SIO_000300: 8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.288e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.74e0

DP
type: SiteQuality
SIO_000300: 1.637942e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.522e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

GenotypeQuality
all individuals: 3412
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8496
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5682
bin: 9.75e1
variant carriers: 2

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009872381411028e-5
allele num: 66448
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.714e0

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.7e-1

FS
type: SiteQuality
SIO_000300: 2.601e0

QD
type: SiteQuality
SIO_000300: 8.84e0

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

DP
type: SiteQuality
SIO_000300: 1.637019e6

GenotypeQuality
all individuals: 5686
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8473
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4677
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.026061974143238e-4
allele num: 9746
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.634744e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.27e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.238e0

VQSLOD
type: SiteQuality
SIO_000300: 3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

FS
type: SiteQuality
SIO_000300: 1.62e0

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

GenotypeQuality
all individuals: 8465
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.634754e6

FS
type: SiteQuality
SIO_000300: 5.493e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.596e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.433e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

GenotypeQuality
all individuals: 2131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506795648374167e-5
allele num: 66366
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

DP
type: SiteQuality
SIO_000300: 1.634485e6

FS
type: SiteQuality
SIO_000300: 3.438e0

QD
type: SiteQuality
SIO_000300: 1.336e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.037e0

VQSLOD
type: SiteQuality
SIO_000300: -1.578e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510710940568632e-5
allele num: 66194
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.5536e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.57e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.08e0

VQSLOD
type: SiteQuality
SIO_000300: -2.396e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

DP
type: SiteQuality
SIO_000300: 1.627572e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3402
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511213201958532e-5
allele num: 66172
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.94e-1

FS
type: SiteQuality
SIO_000300: 2.101e0

MQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.532e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.626707e6

QD
type: SiteQuality
SIO_000300: 1.305e1

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 29228
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5689
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512355948095944e-5
allele num: 66122
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

FS
type: SiteQuality
SIO_000300: 1.231e0

QD
type: SiteQuality
SIO_000300: 1.116e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

DP
type: SiteQuality
SIO_000300: 1.624685e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5690
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026176426085641e-5
allele num: 66090
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.623821e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.544e0

VQSLOD
type: SiteQuality
SIO_000300: -5.603e-1

QD
type: SiteQuality
SIO_000300: 2.25e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

FS
type: SiteQuality
SIO_000300: 4.664e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5692
bin: 9.75e1
variant carriers: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026084851419234e-5
allele num: 66092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.563e0

DP
type: SiteQuality
SIO_000300: 1.623141e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

FS
type: SiteQuality
SIO_000300: 1.773e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

QD
type: SiteQuality
SIO_000300: 1.263e1

MQ
type: SiteQuality
SIO_000300: 5.989e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026909222992402e-5
allele num: 66074
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
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: 11562
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.698e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 2.364e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

GenotypeQuality
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bin: 9.75e1
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 1.618085e6

FS
type: SiteQuality
SIO_000300: 1.899e0

MQ
type: SiteQuality
SIO_000300: 5.135e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.181e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.221e0

QD
type: SiteQuality
SIO_000300: 2.95e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.548348949331393e-5
allele num: 65958
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 4.98e0

MQRankSum
type: SiteQuality
SIO_000300: -9.97e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.083e0

QD
type: SiteQuality
SIO_000300: 1.14e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

DP
type: SiteQuality
SIO_000300: 1.609294e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26903
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GenotypeQuality
all individuals: 2132
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517727051966974e-5
allele num: 65888
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

DP
type: SiteQuality
SIO_000300: 1.604365e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.706e0

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

FS
type: SiteQuality
SIO_000300: 8.43e-1

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8161
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 4.184100418410042e-4
allele num: 9560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65888
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

DP
type: SiteQuality
SIO_000300: 1.604365e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.706e0

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 8.43e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.477e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035454103933948e-5
allele num: 65888
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.706e0

DP
type: SiteQuality
SIO_000300: 1.604365e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

FS
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 415
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variant carriers: 0

GenotypeQuality
all individuals: 3354
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
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: 16438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65842
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.601156e6

MQRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e0

QD
type: SiteQuality
SIO_000300: 1.569e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.017e0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 23

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.040068097525385e-4
allele num: 65788
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
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: 16402
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.049979000419992e-4
allele num: 9524
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.769e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 1.598974e6

VQSLOD
type: SiteQuality
SIO_000300: 5.6e0

QD
type: SiteQuality
SIO_000300: 1.416e1

GenotypeQuality
all individuals: 4644
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variant carriers: 0

GenotypeQuality
all individuals: 25534
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520218911523259e-5
allele num: 65780
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.768e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

DP
type: SiteQuality
SIO_000300: 1.598667e6

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

QD
type: SiteQuality
SIO_000300: 8.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.721e0

GenotypeQuality
all individuals: 540
bin: 4.25e1
variant carriers: 0

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: 11544
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: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 8.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

DP
type: SiteQuality
SIO_000300: 1.598667e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.721e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.768e1

MQRankSum
type: SiteQuality
SIO_000300: -8.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24087
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65698
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
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: 1
allele frequency: 6.109481915933529e-5
allele num: 16368
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.592e0

DP
type: SiteQuality
SIO_000300: 1.599124e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 654
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.502502502502502e-4
allele num: 15984
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.412943e6

QD
type: SiteQuality
SIO_000300: 1.439e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

MQ
type: SiteQuality
SIO_000300: 6.02e1

FS
type: SiteQuality
SIO_000300: 1.114e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62264
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.678499172337686e-4
allele num: 10874
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.536e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.416199e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 1.263e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10868
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.603026514058542e-5
allele num: 62382
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.091e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.436725e6

FS
type: SiteQuality
SIO_000300: 1.404e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10868
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 1.094570928196147e-4
allele num: 9136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.59846547314578e-5
allele num: 62560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62686
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 32
allele frequency: 3.992015968063872e-3
allele num: 8016
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.098e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

GenotypeQuality
all individuals: 1072
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.187250996015936e-5
allele num: 62750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 6.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.488815e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.567e1

GenotypeQuality
all individuals: 4658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591444394932841e-5
allele num: 62836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.550387596899225e-4
allele num: 6450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10936
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.77e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 1.502085e6

FS
type: SiteQuality
SIO_000300: 1.375e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

GenotypeQuality
all individuals: 311
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variant carriers: 0

GenotypeQuality
all individuals: 39989
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63250
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.548467017652524e-4
allele num: 6458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.518e0

MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.525742e6

MQ
type: SiteQuality
SIO_000300: 5.812e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

QD
type: SiteQuality
SIO_000300: 2.318e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11002
num of homozygotes: 0

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

East Asian
type: Population
allele count: 10
allele frequency: 1.23395853899309e-3
allele num: 8104
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.536151e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 1.115e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.085953116481919e-5
allele num: 11006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.53961e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.921e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.489e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.205e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.049e1

GenotypeQuality
all individuals: 331
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573168045810653e-5
allele num: 63566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.542785e6

QD
type: SiteQuality
SIO_000300: 9.44e0

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 1.971e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.576e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556517137253681e-5
allele num: 64246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 4.492e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

QD
type: SiteQuality
SIO_000300: 1.587e1

MQ
type: SiteQuality
SIO_000300: 5.769e1

DP
type: SiteQuality
SIO_000300: 1.569049e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

GenotypeQuality
all individuals: 3320
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538130248869474e-5
allele num: 65014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.891e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e0

VQSLOD
type: SiteQuality
SIO_000300: 4.26e-1

QD
type: SiteQuality
SIO_000300: 1.001e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.592532e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
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: 16194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9456
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540879534038029e-5
allele num: 64898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.664e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.137e0

DP
type: SiteQuality
SIO_000300: 1.590526e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.104e1

GenotypeQuality
all individuals: 1129
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3320
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588814744200826e-5
allele num: 62940
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.333e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.157e0

DP
type: SiteQuality
SIO_000300: 1.551222e6

MQ
type: SiteQuality
SIO_000300: 5.79e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: -1.589e0

GenotypeQuality
all individuals: 35373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.66333998669328e-5
allele num: 60120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9054
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.488548e6

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 1.154e0

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
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variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3590
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54944
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.148897058823529e-4
allele num: 8704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.654e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.254e0

QD
type: SiteQuality
SIO_000300: 1.399e1

DP
type: SiteQuality
SIO_000300: 1.370026e6

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 53236
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 4
allele frequency: 2.71591526344378e-4
allele num: 14728
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.278772378516624e-3
allele num: 782
num of homozygotes: 0

Latino
type: Population
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allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.322674e6

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.294e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53236
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6952
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.278772378516624e-3
allele num: 782
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.35795763172189e-4
allele num: 14728
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.322674e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.553e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13972
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.58378207158695e-4
allele num: 6314
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.328e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

QD
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DP
type: SiteQuality
SIO_000300: 1.186181e6

MQRankSum
type: SiteQuality
SIO_000300: -1.002e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

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: 1
allele frequency: 7.374631268436578e-5
allele num: 13560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6708
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45100
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.293e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 1.543686322939179e-4
allele num: 6478
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5048
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44038
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.335e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.5486160397445e-4
allele num: 5636
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42992
num of homozygotes: 0

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

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

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.034e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.454e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

QD
type: SiteQuality
SIO_000300: 9.52e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.345532831001076e-4
allele num: 7432
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39954
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.000551e6

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12618
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.363140676117775e-4
allele num: 7336
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.574930476877124e-5
allele num: 38836
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4588
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East Asian
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
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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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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37400
num of homozygotes: 0

Latino
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allele frequency: 1.988071570576541e-4
allele num: 5030
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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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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African
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allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 1.081392833970154e-4
allele num: 27742
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 440
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3618
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-2

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
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allele frequency: 6.848821281810973e-4
allele num: 27742
num of homozygotes: 0

African
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allele frequency: 3.610108303249097e-4
allele num: 5540
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European (Finnish)
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East Asian
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allele frequency: 1.061571125265393e-3
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South Asian
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allele frequency: 1.43090760425184e-3
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Latino
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allele num: 3054
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Other
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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European (Non-Finnish)
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num of homozygotes: 0

East Asian
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allele frequency: 2.653927813163482e-4
allele num: 3768
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European (Finnish)
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 2.172e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e-1

DP
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 28

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 7.961783439490446e-4
allele num: 3768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 7.209285559801024e-4
allele num: 27742
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3618
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South Asian
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allele frequency: 5.110384300899427e-4
allele num: 9784
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African
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allele count: 4
allele frequency: 7.220216606498195e-4
allele num: 5540
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 6.548788474132286e-4
allele num: 3054
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Other
type: Population
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allele num: 440
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FS
type: SiteQuality
SIO_000300: 2.172e0

QD
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 8.60688e5

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 2.027712064886786e-3
allele num: 5918
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 2.180866530968305e-4
allele num: 27512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

FS
type: SiteQuality
SIO_000300: 8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.15829e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.843e1

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 297

GenotypeQuality
all individuals: 461
bin: 8.75e1
variant carriers: 348

GenotypeQuality
all individuals: 1473
bin: 3.75e1
variant carriers: 207

African
type: Population
allele count: 2003
allele frequency: 3.884794414274632e-1
allele num: 5156
num of homozygotes: 369

Other
type: Population
allele count: 43
allele frequency: 9.684684684684684e-2
allele num: 444
num of homozygotes: 2

South Asian
type: Population
allele count: 1137
allele frequency: 1.143633071816536e-1
allele num: 9942
num of homozygotes: 61

Latino
type: Population
allele count: 159
allele frequency: 6.167571761055082e-2
allele num: 2578
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 152
allele frequency: 4.470588235294118e-2
allele num: 3400
num of homozygotes: 3

East Asian
type: Population
allele count: 141
allele frequency: 3.827361563517916e-2
allele num: 3684
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 2246
allele frequency: 8.750876646146653e-2
allele num: 25666
num of homozygotes: 111

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 8.33171e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.153e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 512
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 508
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.011667672500503e-4
allele num: 9942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.896205096236266e-5
allele num: 25666
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.33171e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.153e-1

FS
type: SiteQuality
SIO_000300: 8.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3528
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.032844453625284e-4
allele num: 9682
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 7.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.19039e5

GenotypeQuality
all individuals: 3282
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 3528
bin: 9.75e1
variant carriers: 221

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 21

South Asian
type: Population
allele count: 172
allele frequency: 1.776492460235489e-2
allele num: 9682
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.677543186180423e-4
allele num: 5210
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 3.756260434056761e-3
allele num: 2396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3338
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 1.094091903719912e-3
allele num: 3656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 80
allele frequency: 3.204871404534893e-3
allele num: 24962
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 1.116071428571429e-2
allele num: 448
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 7.53e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 8.19039e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

GenotypeQuality
all individuals: 627
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.213364793123789e-5
allele num: 23734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

QD
type: SiteQuality
SIO_000300: 1.54e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

DP
type: SiteQuality
SIO_000300: 7.97515e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.295978905735003e-4
allele num: 3034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1912
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

DP
type: SiteQuality
SIO_000300: 7.88691e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.66e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.057e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8766
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.180549498473615e-4
allele num: 4586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20972
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.87574e5

QD
type: SiteQuality
SIO_000300: 1.414e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 3.84e0

GenotypeQuality
all individuals: 505
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1824
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.3502e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.621e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.79e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 505
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1824
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.233107015842225e-4
allele num: 6186
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 3.3502e5

QD
type: SiteQuality
SIO_000300: 1.621e1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.79e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 170
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 3.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.741979709350151e-4
allele num: 7294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.024590163934426e-3
allele num: 976
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.592e2

QD
type: SiteQuality
SIO_000300: 7.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.085e0

FS
type: SiteQuality
SIO_000300: 1.87237e2

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.65e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.244e0

DP
type: SiteQuality
SIO_000300: 4.15059e5

GenotypeQuality
all individuals: 204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 9.407337723424271e-4
allele num: 2126
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.547987616099071e-3
allele num: 646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.412719891745603e-4
allele num: 7390
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.02020202020202e-3
allele num: 990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.54739e5

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.552e0

QD
type: SiteQuality
SIO_000300: 5.7e-1

FS
type: SiteQuality
SIO_000300: 3.54823e2

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.77e0

VQSLOD
type: SiteQuality
SIO_000300: -5.874e2

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.025682182985554e-4
allele num: 1246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

MQ
type: SiteQuality
SIO_000300: 5.766e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

DP
type: SiteQuality
SIO_000300: 4.66168e5

GenotypeQuality
all individuals: 666
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 3.934684241589612e-4
allele num: 10166
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

FS
type: SiteQuality
SIO_000300: 4.493e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 5.05159e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 905
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.380863039399625e-5
allele num: 10660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1992
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.1817e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: -3.908e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.56e-2

QD
type: SiteQuality
SIO_000300: 1.653e1