2-130832509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832509
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832509
    reference: chr 2
allele count: 4
allele frequency: 3.365360345959044e-5
allele num: 118858
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2536G>A
  hgvsp: ENSP00000350052.5:p.Gly846Ser
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2536G>A
  hgvsp: ENSP00000386786.2:p.Gly846Ser
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33664
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly846Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-130832516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832516
    reference: chr 2
allele count: 2
allele frequency: 1.678528266416006e-5
allele num: 119152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2529C>T
  hgvsp: ENST00000409914.2:c.2529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2529C>T
  hgvsp: ENST00000357462.5:c.2529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33671
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr843Tyr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11548
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-130832520-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832520
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832521
    reference: chr 2
allele count: 1
allele frequency: 8.384056877441857e-6
allele num: 119274
alternate allele: AG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2524dupC
  hgvsp: ENSP00000350052.5:p.Leu842ProfsTer16
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2524dupC
  hgvsp: ENSP00000386786.2:p.Leu842ProfsTer16
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33675
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu842ProfsTer16
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65458
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-130832520-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832520
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832520
    reference: chr 2
allele count: 2
allele frequency: 1.676811375488371e-5
allele num: 119274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2525T>C
  hgvsp: ENSP00000386786.2:p.Leu842Pro
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2525T>C
  hgvsp: ENSP00000350052.5:p.Leu842Pro
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33675
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu842Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8636
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-130832526-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832526
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832526
    reference: chr 2
allele count: 10
allele frequency: 8.376893177858196e-5
allele num: 119376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2519T>C
  hgvsp: ENSP00000386786.2:p.Leu840Pro
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2519T>C
  hgvsp: ENSP00000350052.5:p.Leu840Pro
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11510
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33677
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Leu840Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.038421599169263e-4
  allele num: 9630
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-130832527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832527
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832527
    reference: chr 2
allele count: 1
allele frequency: 8.375349670848758e-6
allele num: 119398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2518C>T
  hgvsp: ENST00000409914.2:c.2518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2518C>T
  hgvsp: ENST00000357462.5:c.2518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu840Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS

2-130832530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832530
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832530
    reference: chr 2
allele count: 9
allele frequency: 7.533650304694301e-5
allele num: 119464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2515G>A
  hgvsp: ENSP00000386786.2:p.Val839Met
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2515G>A
  hgvsp: ENSP00000350052.5:p.Val839Met
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33688
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val839Met
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-130832531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832531
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832531
    reference: chr 2
allele count: 64982
allele frequency: 5.556201583528567e-1
allele num: 116954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2514T>C
  hgvsp: ENST00000409914.2:c.2514T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2514T>C
  hgvsp: ENST00000357462.5:c.2514T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.75e1
  variant carriers: 522
genotype depth: GenotypeDepth
  all individuals: 36539
  bin: 9.75e1
  variant carriers: 33328
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 2.75e1
  variant carriers: 343
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.75e1
  variant carriers: 660
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 8.75e1
  variant carriers: 1509
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 293
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 1473
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.25e1
  variant carriers: 340
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 994
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 858
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 299
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 792
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.25e1
  variant carriers: 440
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 599
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 8.25e1
  variant carriers: 1583
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 6.75e1
  variant carriers: 1259
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 9.25e1
  variant carriers: 1393
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 7.25e1
  variant carriers: 1376
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.75e1
  variant carriers: 234
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 260
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 224
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 152
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.25e1
  variant carriers: 167
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 201
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 216
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 6.75e1
  variant carriers: 279
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 235
genotype quality: GenotypeQuality
  all individuals: 46923
  bin: 9.75e1
  variant carriers: 44240
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 242
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 2.5e0
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 5308
  bin: 6.25e1
  variant carriers: 224
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 207
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 237
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 187
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 232
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 238
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.75e1
  variant carriers: 259
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.25e1
  variant carriers: 243
hgvs: p.Ala838Ala
num of homozygotes: 17438
population: Other
  type: Population
  allele count: 483
  allele frequency: 5.451467268623025e-1
  allele num: 886
  num of homozygotes: 125
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-130832531-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832531
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832531
    reference: chr 2
allele count: 4
allele frequency: 3.420148092412402e-5
allele num: 116954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2514T>A
  hgvsp: ENST00000409914.2:c.2514T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2514T>A
  hgvsp: ENST00000357462.5:c.2514T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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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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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala838Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 886
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

2-130832532-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832532
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832532
    reference: chr 2
allele count: 2
allele frequency: 1.66472448809722e-5
allele num: 120140
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2513C>A
  hgvsp: ENSP00000350052.5:p.Ala838Asp
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2513C>A
  hgvsp: ENSP00000386786.2:p.Ala838Asp
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10252
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28440
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2619
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala838Asp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9884
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-130832533-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832533
    reference: chr 2
allele count: 3
allele frequency: 2.497003595685178e-5
allele num: 120144
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2512G>T
  hgvsp: ENSP00000350052.5:p.Ala838Ser
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2512G>T
  hgvsp: ENSP00000386786.2:p.Ala838Ser
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 14019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
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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
  all individuals: 3356
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 539
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genotype depth: GenotypeDepth
  all individuals: 8166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 255
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genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9847
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1213
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala838Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-130832534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832534
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832534
    reference: chr 2
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2511G>A
  hgvsp: ENST00000409914.2:c.2511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2511G>A
  hgvsp: ENST00000357462.5:c.2511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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: 1213
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hgvs: p.Gln837Gln
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

2-130832535-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832535
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832535
    reference: chr 2
allele count: 2
allele frequency: 1.664752201634787e-5
allele num: 120138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2510A>T
  hgvsp: ENSP00000386786.2:p.Gln837Leu
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2510A>T
  hgvsp: ENSP00000350052.5:p.Gln837Leu
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10250
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9848
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln837Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-130832538-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832538
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 120072
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2507T>A
  hgvsp: ENSP00000350052.5:p.Ile836Asn
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2507T>A
  hgvsp: ENSP00000386786.2:p.Ile836Asn
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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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: 2656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile836Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-130832544-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832544
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832544
    reference: chr 2
allele count: 4
allele frequency: 3.332555736994701e-5
allele num: 120028
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2501T>C
  hgvsp: ENSP00000350052.5:p.Val834Ala
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2501T>C
  hgvsp: ENSP00000386786.2:p.Val834Ala
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val834Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8644
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-130832545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832545
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832545
    reference: chr 2
allele count: 355
allele frequency: 2.958579881656805e-3
allele num: 119990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2500G>A
  hgvsp: ENSP00000386786.2:p.Val834Met
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2500G>A
  hgvsp: ENSP00000350052.5:p.Val834Met
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 431
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
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  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10267
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  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 260
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  variant carriers: 16
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 7.25e1
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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: 2656
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genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 2
hgvs: p.Val834Met
num of homozygotes: 1
population: European (Non-Finnish)
  type: Population
  allele count: 309
  allele frequency: 4.687357786474925e-3
  allele num: 65922
  num of homozygotes: 1
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

2-130832546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832546
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832546
    reference: chr 2
allele count: 2
allele frequency: 1.667389201987528e-5
allele num: 119948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2499C>T
  hgvsp: ENST00000409914.2:c.2499C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2499C>T
  hgvsp: ENST00000357462.5:c.2499C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr833Tyr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-130832546-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832546
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832546
    reference: chr 2
allele count: 1
allele frequency: 8.33694600993764e-6
allele num: 119948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2499C>A
  hgvsp: ENSP00000386786.2:p.Tyr833Ter
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2499C>A
  hgvsp: ENSP00000350052.5:p.Tyr833Ter
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10089
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28581
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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: 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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9895
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 332
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr833Ter
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11568
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-130832551-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832551
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832551
    reference: chr 2
allele count: 1
allele frequency: 8.349893956346754e-6
allele num: 119762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2494A>G
  hgvsp: ENSP00000386786.2:p.Met832Val
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2494A>G
  hgvsp: ENSP00000350052.5:p.Met832Val
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2626
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 404
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2663
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met832Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-130832555-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832555
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832554
    reference: chr 2
allele count: 1
allele frequency: 8.360365180751095e-6
allele num: 119612
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2489delC
  hgvsp: ENSP00000350052.5:p.Pro830GlnfsTer23
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2489delC
  hgvsp: ENSP00000386786.2:p.Pro830GlnfsTer23
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10087
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15312
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2664
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro830GlnfsTer23
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8644
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: TG
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-130832557-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832557
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832557
    reference: chr 2
allele count: 4
allele frequency: 3.34739238133494e-5
allele num: 119496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2488C>T
  hgvsp: ENSP00000386786.2:p.Pro830Ser
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2488C>T
  hgvsp: ENSP00000350052.5:p.Pro830Ser
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 15311
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13368
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro830Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-130832560-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832560
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832560
    reference: chr 2
allele count: 1
allele frequency: 8.391514500537057e-6
allele num: 119168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2485A>G
  hgvsp: ENSP00000386786.2:p.Thr829Ala
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2485A>G
  hgvsp: ENSP00000350052.5:p.Thr829Ala
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13086
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr829Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11564
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-130832560-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832560
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832560
    reference: chr 2
allele count: 37
allele frequency: 3.104860365198711e-4
allele num: 119168
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2485A>C
  hgvsp: ENSP00000350052.5:p.Thr829Pro
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2485A>C
  hgvsp: ENSP00000386786.2:p.Thr829Pro
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13086
  bin: 9.75e1
  variant carriers: 8
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
  all individuals: 102
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 3
hgvs: p.Thr829Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-130832561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832561
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832561
    reference: chr 2
allele count: 1
allele frequency: 8.370862701109976e-6
allele num: 119462
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2484C>T
  hgvsp: ENST00000357462.5:c.2484C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2484C>T
  hgvsp: ENST00000409914.2:c.2484C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9990
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
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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: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28899
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genotype quality: GenotypeQuality
  all individuals: 602
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13001
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn828Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-130832566-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832566
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832566
    reference: chr 2
allele count: 1
allele frequency: 8.378437253883405e-6
allele num: 119354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2479T>A
  hgvsp: ENSP00000386786.2:p.Phe827Ile
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2479T>A
  hgvsp: ENSP00000350052.5:p.Phe827Ile
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13000
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe827Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-130832568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832568
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832568
    reference: chr 2
allele count: 1
allele frequency: 8.379701012267883e-6
allele num: 119336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2477C>T
  hgvsp: ENSP00000386786.2:p.Thr826Ile
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2477C>T
  hgvsp: ENSP00000350052.5:p.Thr826Ile
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13000
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr826Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11572
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-130832574-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832574
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832574
    reference: chr 2
allele count: 9
allele frequency: 7.529742482807088e-5
allele num: 119526
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2471T>C
  hgvsp: ENSP00000350052.5:p.Phe824Ser
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2471T>C
  hgvsp: ENSP00000386786.2:p.Phe824Ser
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13001
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe824Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-130832574-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832574
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832574
    reference: chr 2
allele count: 1
allele frequency: 8.36638053645232e-6
allele num: 119526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2471T>A
  hgvsp: ENSP00000386786.2:p.Phe824Tyr
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2471T>A
  hgvsp: ENSP00000350052.5:p.Phe824Tyr
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 13001
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9953
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 640
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genotype quality: GenotypeQuality
  all individuals: 90
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genotype quality: GenotypeQuality
  all individuals: 2681
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genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe824Tyr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11572
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-130832577-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832577
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832577
    reference: chr 2
allele count: 2
allele frequency: 1.669003271246412e-5
allele num: 119832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2468T>C
  hgvsp: ENSP00000386786.2:p.Met823Thr
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2468T>C
  hgvsp: ENSP00000350052.5:p.Met823Thr
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9986
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
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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
  all individuals: 4092
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9964
  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
  all individuals: 2681
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1212
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12992
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Met823Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-130832579-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832579
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832579
    reference: chr 2
allele count: 1
allele frequency: 8.342092530490349e-6
allele num: 119874
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2466C>G
  hgvsp: ENSP00000350052.5:p.Ile822Met
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2466C>G
  hgvsp: ENSP00000386786.2:p.Ile822Met
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12991
  bin: 9.75e1
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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: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29139
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genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 9969
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile822Met
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9758
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-130832582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832582
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832582
    reference: chr 2
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2463G>A
  hgvsp: ENST00000357462.5:c.2463G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2463G>A
  hgvsp: ENST00000409914.2:c.2463G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 426
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 400
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
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  variant carriers: 0
hgvs: p.Gln821Gln
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-130832588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832588
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832588
    reference: chr 2
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2457G>A
  hgvsp: ENSP00000386786.2:p.Met819Ile
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2457G>A
  hgvsp: ENSP00000350052.5:p.Met819Ile
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9986
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 15412
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 425
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2687
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met819Ile
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.512767759893501e-5
  allele num: 66104
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-130832589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832589
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832589
    reference: chr 2
allele count: 4
allele frequency: 3.320935175345377e-5
allele num: 120448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2456T>C
  hgvsp: ENSP00000386786.2:p.Met819Thr
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2456T>C
  hgvsp: ENSP00000350052.5:p.Met819Thr
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 10014
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met819Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-130832589-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832589
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832586
    reference: chr 2
allele count: 6
allele frequency: 4.981402763018066e-5
allele num: 120448
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2453_2455delAGA
  hgvsp: ENSP00000350052.5:p.Lys818del
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2453_2455delAGA
  hgvsp: ENSP00000386786.2:p.Lys818del
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9987
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 29651
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
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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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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 12990
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys818del
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 5
  allele frequency: 7.55013288233873e-5
  allele num: 66224
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: ATCT
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

2-130832592-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832592
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832592
    reference: chr 2
allele count: 5
allele frequency: 4.148000663680106e-5
allele num: 120540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2453A>T
  hgvsp: ENSP00000386786.2:p.Lys818Met
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2453A>T
  hgvsp: ENSP00000350052.5:p.Lys818Met
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14281
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 226
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 240
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genotype depth: GenotypeDepth
  all individuals: 425
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  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
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2656
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 400
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys818Met
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 6.035003017501508e-5
  allele num: 66280
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-130832597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832597
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832597
    reference: chr 2
allele count: 4
allele frequency: 3.312574532926991e-5
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2448C>T
  hgvsp: ENST00000357462.5:c.2448C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2448C>T
  hgvsp: ENST00000409914.2:c.2448C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9983
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 316
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
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genotype depth: GenotypeDepth
  all individuals: 240
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12981
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 400
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg816Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

2-130832598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832598
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832598
    reference: chr 2
allele count: 8752
allele frequency: 7.388896393354046e-2
allele num: 118448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2447G>A
  hgvsp: ENSP00000386786.2:p.Arg816His
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2447G>A
  hgvsp: ENSP00000350052.5:p.Arg816His
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 110
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  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 15444
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genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 618
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 15
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 8700
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 348
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  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 7.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 8239
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 91
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genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
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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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  variant carriers: 40
genotype quality: GenotypeQuality
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  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 38
hgvs: p.Arg816His
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 712
  allele frequency: 6.196692776327241e-2
  allele num: 11490
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum

2-130832599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832599
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832599
    reference: chr 2
allele count: 2
allele frequency: 1.653767281868095e-5
allele num: 120936
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2446C>T
  hgvsp: ENSP00000350052.5:p.Arg816Cys
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2446C>T
  hgvsp: ENSP00000386786.2:p.Arg816Cys
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10310
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 10143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12503
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg816Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-130832604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832604
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832604
    reference: chr 2
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2441C>T
  hgvsp: ENSP00000386786.2:p.Ala814Val
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2441C>T
  hgvsp: ENSP00000350052.5:p.Ala814Val
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12501
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 357
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala814Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

2-130832609-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832609
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832609
    reference: chr 2
allele count: 5240
allele frequency: 4.469540592640611e-2
allele num: 117238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2436T>C
  hgvsp: ENST00000409914.2:c.2436T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2436T>C
  hgvsp: ENST00000357462.5:c.2436T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10328
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  variant carriers: 5460
genotype depth: GenotypeDepth
  all individuals: 153
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
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genotype depth: GenotypeDepth
  all individuals: 8349
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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 78
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 164
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 73
hgvs: p.Pro812Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 22
  allele frequency: 2.548065786425759e-3
  allele num: 8634
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

2-130832610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832610
    reference: chr 2
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2435C>T
  hgvsp: ENSP00000386786.2:p.Pro812Leu
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2435C>T
  hgvsp: ENSP00000350052.5:p.Pro812Leu
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
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genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 153
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro812Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-130832611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832611
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832611
    reference: chr 2
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2434C>T
  hgvsp: ENSP00000386786.2:p.Pro812Ser
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2434C>T
  hgvsp: ENSP00000350052.5:p.Pro812Ser
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10090
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
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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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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11917
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro812Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 2.312138728323699e-4
  allele num: 8650
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-130832612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832612
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832612
    reference: chr 2
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2433C>T
  hgvsp: ENST00000357462.5:c.2433C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2433C>T
  hgvsp: ENST00000409914.2:c.2433C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10267
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn811Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056201550387597e-5
  allele num: 16512
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-130832613-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832613
    reference: chr 2
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2432A>T
  hgvsp: ENSP00000386786.2:p.Asn811Ile
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2432A>T
  hgvsp: ENSP00000350052.5:p.Asn811Ile
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10090
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn811Ile
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

2-130832616-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832616
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832616
    reference: chr 2
allele count: 3
allele frequency: 2.474798303938229e-5
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2429T>C
  hgvsp: ENSP00000386786.2:p.Leu810Pro
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2429T>C
  hgvsp: ENSP00000350052.5:p.Leu810Pro
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11915
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu810Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.637070305752289e-5
  allele num: 11578
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-130832619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832619
    reference: chr 2
allele count: 3
allele frequency: 2.474798303938229e-5
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2426C>T
  hgvsp: ENSP00000350052.5:p.Thr809Ile
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2426C>T
  hgvsp: ENSP00000386786.2:p.Thr809Ile
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10089
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11914
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr809Ile
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-130832620-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832620
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832620
    reference: chr 2
allele count: 2
allele frequency: 1.710161781304512e-5
allele num: 116948
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2425A>G
  hgvsp: ENSP00000350052.5:p.Thr809Ala
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2425A>G
  hgvsp: ENSP00000386786.2:p.Thr809Ala
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7632
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr809Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11134
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-130832620-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832620
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832620
    reference: chr 2
allele count: 3672
allele frequency: 3.139857030475083e-2
allele num: 116948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2425A>C
  hgvsp: ENSP00000386786.2:p.Thr809Pro
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2425A>C
  hgvsp: ENSP00000350052.5:p.Thr809Pro
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 9.75e1
  variant carriers: 3843
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15652
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 10355
  bin: 6.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 200
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  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 168
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genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 30622
  bin: 6.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 7632
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 520
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genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 7.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 8.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 50
hgvs: p.Thr809Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 254
  allele frequency: 2.281300520926891e-2
  allele num: 11134
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

2-130832623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832623
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832623
    reference: chr 2
allele count: 29
allele frequency: 2.392462916824789e-4
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2422G>A
  hgvsp: ENSP00000350052.5:p.Ala808Thr
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2422G>A
  hgvsp: ENSP00000386786.2:p.Ala808Thr
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
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genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 422
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11537
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
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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: 434
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2804
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala808Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 29
  allele frequency: 2.8138948185523e-3
  allele num: 10306
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-130832626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832626
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832626
    reference: chr 2
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2419G>A
  hgvsp: ENSP00000386786.2:p.Glu807Lys
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2419G>A
  hgvsp: ENSP00000350052.5:p.Glu807Lys
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu807Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

2-130832627-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832627
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832627
    reference: chr 2
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2418C>A
  hgvsp: ENST00000409914.2:c.2418C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2418C>A
  hgvsp: ENST00000357462.5:c.2418C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr806Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-130832627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832627
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832627
    reference: chr 2
allele count: 12
allele frequency: 9.899519873286146e-5
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2418C>T
  hgvsp: ENST00000409914.2:c.2418C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2418C>T
  hgvsp: ENST00000357462.5:c.2418C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11510
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30658
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr806Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.727414061150458e-4
  allele num: 11578
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-130832634-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832634
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832634
    reference: chr 2
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2411T>C
  hgvsp: ENSP00000386786.2:p.Leu804Pro
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2411T>C
  hgvsp: ENSP00000350052.5:p.Leu804Pro
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11499
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
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genotype quality: GenotypeQuality
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
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genotype quality: GenotypeQuality
  all individuals: 10346
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 2833
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu804Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056201550387597e-5
  allele num: 16512
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-130832638-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832638
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832638
    reference: chr 2
allele count: 1
allele frequency: 8.504703100814751e-6
allele num: 117582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2407G>T
  hgvsp: ENSP00000350052.5:p.Val803Phe
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2407G>T
  hgvsp: ENSP00000386786.2:p.Val803Phe
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15714
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 158
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 14584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
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genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7791
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val803Phe
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16428
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-130832638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832638
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832638
    reference: chr 2
allele count: 4162
allele frequency: 3.539657430559099e-2
allele num: 117582
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2407G>A
  hgvsp: ENSP00000350052.5:p.Val803Ile
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2407G>A
  hgvsp: ENSP00000386786.2:p.Val803Ile
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14584
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15714
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 9.75e1
  variant carriers: 4321
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 7.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 2.5e0
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 7791
  bin: 9.75e1
  variant carriers: 3404
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 30512
  bin: 6.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 10387
  bin: 6.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 7.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 8.25e1
  variant carriers: 48
hgvs: p.Val803Ile
num of homozygotes: 3
population: Latino
  type: Population
  allele count: 272
  allele frequency: 2.416918429003021e-2
  allele num: 11254
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-130832639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832639
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832639
    reference: chr 2
allele count: 2
allele frequency: 1.652046059044126e-5
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2406C>T
  hgvsp: ENST00000409914.2:c.2406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2406C>T
  hgvsp: ENST00000357462.5:c.2406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30744
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 10366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11338
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro802Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-130832641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832641
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832641
    reference: chr 2
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2404C>T
  hgvsp: ENSP00000386786.2:p.Pro802Ser
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2404C>T
  hgvsp: ENSP00000350052.5:p.Pro802Ser
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 7.25e1
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro802Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

2-130832643-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832643
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832643
    reference: chr 2
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2402A>G
  hgvsp: ENSP00000386786.2:p.His801Arg
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2402A>G
  hgvsp: ENSP00000350052.5:p.His801Arg
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  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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  variant carriers: 0
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
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
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genotype quality: GenotypeQuality
  all individuals: 11336
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30542
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His801Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-130832650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832650
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832650
    reference: chr 2
allele count: 4
allele frequency: 3.308574169961455e-5
allele num: 120898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2395G>A
  hgvsp: ENSP00000386786.2:p.Glu799Lys
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2395G>A
  hgvsp: ENSP00000350052.5:p.Glu799Lys
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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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
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 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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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 10330
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu799Lys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-130832651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832651
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832651
    reference: chr 2
allele count: 7
allele frequency: 5.790866975512905e-5
allele num: 120880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2394C>T
  hgvsp: ENST00000357462.5:c.2394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2394C>T
  hgvsp: ENST00000409914.2:c.2394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9291
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  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 715
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 398
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genotype quality: GenotypeQuality
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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: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30334
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro798Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

2-130832654-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832654
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832654
    reference: chr 2
allele count: 3
allele frequency: 2.485336514564072e-5
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2391T>C
  hgvsp: ENST00000409914.2:c.2391T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2391T>C
  hgvsp: ENST00000357462.5:c.2391T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10304
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala797Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

2-130832655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832655
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832655
    reference: chr 2
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2390C>T
  hgvsp: ENSP00000350052.5:p.Ala797Val
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2390C>T
  hgvsp: ENSP00000386786.2:p.Ala797Val
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10305
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala797Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-130832657-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832657
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832657
    reference: chr 2
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2388G>T
  hgvsp: ENST00000409914.2:c.2388G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2388G>T
  hgvsp: ENST00000357462.5:c.2388G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 15828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 10301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  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: 5.75e1
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val796Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

2-130832658-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832658
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832658
    reference: chr 2
allele count: 3
allele frequency: 2.486572508454347e-5
allele num: 120648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2387T>C
  hgvsp: ENSP00000386786.2:p.Val796Ala
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2387T>C
  hgvsp: ENSP00000350052.5:p.Val796Ala
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15821
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8444
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 398
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11325
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 475
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genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val796Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

2-130832661-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832661
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832661
    reference: chr 2
allele count: 5
allele frequency: 4.149584211661991e-5
allele num: 120494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2384G>A
  hgvsp: ENSP00000386786.2:p.Arg795His
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2384G>A
  hgvsp: ENSP00000350052.5:p.Arg795His
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 650
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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
  all individuals: 418
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 174
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 10290
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 398
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg795His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-130832665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832665
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832665
    reference: chr 2
allele count: 2
allele frequency: 1.662510390689942e-5
allele num: 120300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2380C>T
  hgvsp: ENST00000409914.2:c.2380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2380C>T
  hgvsp: ENST00000357462.5:c.2380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 15813
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1303
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hgvs: p.Leu794Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-130832668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832668
    reference: chr 2
allele count: 27
allele frequency: 2.249400159957345e-4
allele num: 120032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2377G>A
  hgvsp: ENSP00000386786.2:p.Glu793Lys
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2377G>A
  hgvsp: ENSP00000350052.5:p.Glu793Lys
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11318
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu793Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 24
  allele frequency: 2.775208140610546e-3
  allele num: 8648
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-130832668-CGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832665
    reference: chr 2
allele count: 3
allele frequency: 2.499333511063716e-5
allele num: 120032
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2374_2376delAAC
  hgvsp: ENSP00000350052.5:p.Asn792del
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2374_2376delAAC
  hgvsp: ENSP00000386786.2:p.Asn792del
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9284
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11318
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn792del
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: CGTT
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-130832669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832669
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832669
    reference: chr 2
allele count: 6582
allele frequency: 5.647652388797364e-2
allele num: 116544
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2376C>T
  hgvsp: ENST00000357462.5:c.2376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2376C>T
  hgvsp: ENST00000409914.2:c.2376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14505
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 9.75e1
  variant carriers: 6526
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 15812
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.75e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.25e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 109
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.5e0
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.25e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 29827
  bin: 6.25e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 7.75e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 117
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.5e0
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 7763
  bin: 9.75e1
  variant carriers: 5057
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 7.25e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 10300
  bin: 6.75e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 8.25e1
  variant carriers: 101
hgvs: p.Asn792Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 20
  allele frequency: 2.315886984715146e-3
  allele num: 8636
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-130832670-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832670
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832670
    reference: chr 2
allele count: 1
allele frequency: 8.346966712296751e-6
allele num: 119804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2375A>G
  hgvsp: ENSP00000386786.2:p.Asn792Ser
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2375A>G
  hgvsp: ENSP00000350052.5:p.Asn792Ser
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
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genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn792Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

2-130832672-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832672
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832672
    reference: chr 2
allele count: 1
allele frequency: 8.357570287166115e-6
allele num: 119652
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2373C>A
  hgvsp: ENSP00000350052.5:p.Tyr791Ter
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2373C>A
  hgvsp: ENSP00000386786.2:p.Tyr791Ter
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 33774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr791Ter
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-130832673-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832673
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832673
    reference: chr 2
allele count: 2
allele frequency: 1.670648378635748e-5
allele num: 119714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2372A>T
  hgvsp: ENSP00000386786.2:p.Tyr791Phe
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2372A>T
  hgvsp: ENSP00000350052.5:p.Tyr791Phe
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33789
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr791Phe
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9796
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-130832673-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832673
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832673
    reference: chr 2
allele count: 1
allele frequency: 8.353241893178742e-6
allele num: 119714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2372A>G
  hgvsp: ENSP00000386786.2:p.Tyr791Cys
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2372A>G
  hgvsp: ENSP00000350052.5:p.Tyr791Cys
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr791Cys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 898
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-130832676-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832676
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832676
    reference: chr 2
allele count: 14
allele frequency: 1.171842303507157e-4
allele num: 119470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2369T>C
  hgvsp: ENSP00000386786.2:p.Phe790Ser
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2369T>C
  hgvsp: ENSP00000350052.5:p.Phe790Ser
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe790Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65508
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-130832683-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832683
    reference: chr 2
allele count: 1
allele frequency: 8.38321345338095e-6
allele num: 119286
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2362C>A
  hgvsp: ENSP00000350052.5:p.His788Asn
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2362C>A
  hgvsp: ENSP00000386786.2:p.His788Asn
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5229
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His788Asn
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65408
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-130832684-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832684
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832684
    reference: chr 2
allele count: 3
allele frequency: 2.515301416953132e-5
allele num: 119270
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2361C>G
  hgvsp: ENSP00000350052.5:p.His787Gln
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2361C>G
  hgvsp: ENSP00000386786.2:p.His787Gln
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5228
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 33675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His787Gln
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-130832686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130832686
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 130832686
    reference: chr 2
allele count: 1
allele frequency: 8.386588168201411e-6
allele num: 119238
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000350052
  ensembl transcript: ENST00000357462
  gene symbol: POTEF
  hgvsc: ENST00000357462.5:c.2359C>T
  hgvsp: ENSP00000350052.5:p.His787Tyr
  variant of: http://identifiers.org/hgnc/33905
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196604
  ensembl protein: ENSP00000386786
  ensembl transcript: ENST00000409914
  gene symbol: POTEF
  hgvsc: ENST00000409914.2:c.2359C>T
  hgvsp: ENSP00000386786.2:p.His787Tyr
  variant of: http://identifiers.org/hgnc/33905
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His787Tyr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.134969325153375e-5
allele num: 65200
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.915e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

MQRankSum
type: SiteQuality
SIO_000300: -2.995e0

DP
type: SiteQuality
SIO_000300: 3.009566e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 4.148e0

MQ
type: SiteQuality
SIO_000300: 4.678e1

QD
type: SiteQuality
SIO_000300: 5.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529192280637367e-5
allele num: 65394
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.696e0

MQ
type: SiteQuality
SIO_000300: 4.791e1

VQSLOD
type: SiteQuality
SIO_000300: -1.76e1

FS
type: SiteQuality
SIO_000300: 5.7984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

DP
type: SiteQuality
SIO_000300: 3.012547e6

QD
type: SiteQuality
SIO_000300: 5.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 1
allele frequency: 1.040366208905535e-4
allele num: 9612
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 1.952e1

MQ
type: SiteQuality
SIO_000300: 3.269e1

DP
type: SiteQuality
SIO_000300: 3.014144e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 9.0425e1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.345e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
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

VQSLOD
type: SiteQuality
SIO_000300: -6.345e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
SIO_000300: 9.0425e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

DP
type: SiteQuality
SIO_000300: 3.014144e6

MQ
type: SiteQuality
SIO_000300: 3.269e1

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.154994049253868e-5
allele num: 65538
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.485e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.883e0

FS
type: SiteQuality
SIO_000300: 3.7174e1

MQRankSum
type: SiteQuality
SIO_000300: -2.429e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.79e-1

DP
type: SiteQuality
SIO_000300: 3.017526e6

VQSLOD
type: SiteQuality
SIO_000300: -1.015e1

QD
type: SiteQuality
SIO_000300: 2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.36e-1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525692664469669e-5
allele num: 65544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.884e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.896e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

MQ
type: SiteQuality
SIO_000300: 5.115e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.83e0

QD
type: SiteQuality
SIO_000300: 6.49e0

DP
type: SiteQuality
SIO_000300: 3.017797e6

FS
type: SiteQuality
SIO_000300: 6.28e0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.0351966873706e-4
allele num: 9660
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.623578202665203e-5
allele num: 65586
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 3.909e1

VQSLOD
type: SiteQuality
SIO_000300: -1.947e1

FS
type: SiteQuality
SIO_000300: 5.6843e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 3.020023e6

MQRankSum
type: SiteQuality
SIO_000300: -5.791e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.44e0

QD
type: SiteQuality
SIO_000300: 2.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

South Asian
type: Population
allele count: 8712
allele frequency: 5.313491095389119e-1
allele num: 16396
num of homozygotes: 2293

African
type: Population
allele count: 5540
allele frequency: 5.725506407606449e-1
allele num: 9676
num of homozygotes: 1590

European (Finnish)
type: Population
allele count: 3444
allele frequency: 5.287073994473441e-1
allele num: 6514
num of homozygotes: 910

East Asian
type: Population
allele count: 4851
allele frequency: 5.759914509617668e-1
allele num: 8422
num of homozygotes: 1409

Latino
type: Population
allele count: 7431
allele frequency: 6.574942488055211e-1
allele num: 11302
num of homozygotes: 2347

European (Non-Finnish)
type: Population
allele count: 34521
allele frequency: 5.414379372000376e-1
allele num: 63758
num of homozygotes: 8764

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

DP
type: SiteQuality
SIO_000300: 8.975273e6

VQSLOD
type: SiteQuality
SIO_000300: -5.895e1

MQ
type: SiteQuality
SIO_000300: 4.501e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.316e0

MQRankSum
type: SiteQuality
SIO_000300: -7.583e0

FS
type: SiteQuality
SIO_000300: 1.08638e2

QD
type: SiteQuality
SIO_000300: 9.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187366421277606e-4
allele num: 8422
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.535155050660117e-4
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.136861256626619e-5
allele num: 63758
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.316e0

FS
type: SiteQuality
SIO_000300: 1.08638e2

MQRankSum
type: SiteQuality
SIO_000300: -7.583e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.895e1

QD
type: SiteQuality
SIO_000300: 9.07e0

DP
type: SiteQuality
SIO_000300: 8.975273e6

MQ
type: SiteQuality
SIO_000300: 4.501e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

South Asian
type: Population
allele count: 0
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allele num: 16512
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Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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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: 3.029476809355024e-5
allele num: 66018
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East Asian
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allele count: 0
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allele num: 8640
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.845e0

DP
type: SiteQuality
SIO_000300: 3.815687e6

FS
type: SiteQuality
SIO_000300: 3.597e0

MQ
type: SiteQuality
SIO_000300: 5.208e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: -1.548e0

QD
type: SiteQuality
SIO_000300: 7.29e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.02388180530257e-4
allele num: 9882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514646632940535e-5
allele num: 66022
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
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MQRankSum
type: SiteQuality
SIO_000300: -1.557e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.727e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 5.5827e1

DP
type: SiteQuality
SIO_000300: 3.815295e6

MQ
type: SiteQuality
SIO_000300: 3.824e1

QD
type: SiteQuality
SIO_000300: 2.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.579e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514600751241973e-5
allele num: 66024
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South Asian
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allele count: 0
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allele num: 16510
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.347e0

QD
type: SiteQuality
SIO_000300: 7.49e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 4.3309e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.267e1

MQ
type: SiteQuality
SIO_000300: 3.362e1

DP
type: SiteQuality
SIO_000300: 3.815218e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66012
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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QD
type: SiteQuality
SIO_000300: 9.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 4.806e1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e0

FS
type: SiteQuality
SIO_000300: 2.6104e1

DP
type: SiteQuality
SIO_000300: 3.814832e6

VQSLOD
type: SiteQuality
SIO_000300: -6.664e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.552e0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
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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: 902
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 3.181e1

FS
type: SiteQuality
SIO_000300: 3.522e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 4.39e0

VQSLOD
type: SiteQuality
SIO_000300: -4.638e0

DP
type: SiteQuality
SIO_000300: 3.81365e6

MQRankSum
type: SiteQuality
SIO_000300: -1.881e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.159e0

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: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.065752759917505e-5
allele num: 65944
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
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FS
type: SiteQuality
SIO_000300: 3.838e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.291e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.138e0

MQ
type: SiteQuality
SIO_000300: 4.814e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 3.813024e6

QD
type: SiteQuality
SIO_000300: 4.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

Latino
type: Population
allele count: 12
allele frequency: 1.037523776586547e-3
allele num: 11566
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African
type: Population
allele count: 11
allele frequency: 1.118795768917819e-3
allele num: 9832
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Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
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South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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European (Finnish)
type: Population
allele count: 19
allele frequency: 2.872694284850318e-3
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.797e1

QD
type: SiteQuality
SIO_000300: 5.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.62e-1

FS
type: SiteQuality
SIO_000300: 5.8734e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

MQ
type: SiteQuality
SIO_000300: 4.102e1

DP
type: SiteQuality
SIO_000300: 3.81579e6

MQRankSum
type: SiteQuality
SIO_000300: -1.478e0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035085589413621e-5
allele num: 65896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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South Asian
type: Population
allele count: 0
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allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

FS
type: SiteQuality
SIO_000300: 1.4244e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

QD
type: SiteQuality
SIO_000300: 1.517e1

MQ
type: SiteQuality
SIO_000300: 4.679e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.993e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 3.779942e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.517542794706811e-5
allele num: 65896
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 0
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allele num: 9812
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East Asian
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allele count: 0
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allele num: 8644
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 1.4244e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: -2.993e0

MQ
type: SiteQuality
SIO_000300: 4.679e1

DP
type: SiteQuality
SIO_000300: 3.779942e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.517e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5194797301404e-5
allele num: 65812
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele count: 0
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African
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allele count: 0
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Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 902
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VQSLOD
type: SiteQuality
SIO_000300: -3.836e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.075e0

MQ
type: SiteQuality
SIO_000300: 4.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 3.581e0

DP
type: SiteQuality
SIO_000300: 3.778468e6

QD
type: SiteQuality
SIO_000300: 9.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

Other
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allele count: 0
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allele num: 902
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.521375323292256e-5
allele num: 65730
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African
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allele count: 0
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allele num: 9642
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 0
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allele num: 16512
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VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

FS
type: SiteQuality
SIO_000300: 1.0636e1

DP
type: SiteQuality
SIO_000300: 3.777907e6

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.08e-1

MQ
type: SiteQuality
SIO_000300: 4.691e1

QD
type: SiteQuality
SIO_000300: 1.558e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.572e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

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

African
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allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 4
allele frequency: 3.457814661134163e-4
allele num: 11568
num of homozygotes: 0

Other
type: Population
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allele num: 902
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.317e0

FS
type: SiteQuality
SIO_000300: 6.085e0

DP
type: SiteQuality
SIO_000300: 3.777668e6

MQ
type: SiteQuality
SIO_000300: 4.795e1

VQSLOD
type: SiteQuality
SIO_000300: -2.208e0

QD
type: SiteQuality
SIO_000300: 2.9e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

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

European (Non-Finnish)
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allele count: 0
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East Asian
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allele count: 1
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allele num: 8642
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
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Other
type: Population
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VQSLOD
type: SiteQuality
SIO_000300: -1.159e2

MQRankSum
type: SiteQuality
SIO_000300: -3.279e0

MQ
type: SiteQuality
SIO_000300: 3.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.726e0

QD
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.124e0

FS
type: SiteQuality
SIO_000300: 1.57825e2

DP
type: SiteQuality
SIO_000300: 3.785716e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.138776009043967e-4
allele num: 65458
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.100399075824407e-4
allele num: 9522
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East Asian
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
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European (Finnish)
type: Population
allele count: 19
allele frequency: 2.890173410404624e-3
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 0
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.726e0

FS
type: SiteQuality
SIO_000300: 1.57825e2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.124e0

MQ
type: SiteQuality
SIO_000300: 3.977e1

VQSLOD
type: SiteQuality
SIO_000300: -1.159e2

DP
type: SiteQuality
SIO_000300: 3.785716e6

MQRankSum
type: SiteQuality
SIO_000300: -3.279e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
SIO_000300: 4.8e-1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523554147114388e-5
allele num: 65636
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 4.569e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

VQSLOD
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QD
type: SiteQuality
SIO_000300: 4.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.626e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.46e-1

FS
type: SiteQuality
SIO_000300: 1.479e0

DP
type: SiteQuality
SIO_000300: 3.758048e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9558
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52545992616774e-5
allele num: 65554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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Latino
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allele count: 0
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QD
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ReadPosRankSum
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SIO_000300: -6.909999999999999e-1

MQ
type: SiteQuality
SIO_000300: 4.234e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.758188e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.935e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65546
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.056e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.057e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.125e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

DP
type: SiteQuality
SIO_000300: 3.758295e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65652
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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African
type: Population
allele count: 9
allele frequency: 9.351620947630922e-4
allele num: 9624
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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FS
type: SiteQuality
SIO_000300: 7.331e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.75e0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e0

MQ
type: SiteQuality
SIO_000300: 4.788e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e0

QD
type: SiteQuality
SIO_000300: 1.755e1

DP
type: SiteQuality
SIO_000300: 3.760377e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65652
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.039068994181214e-4
allele num: 9624
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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VQSLOD
type: SiteQuality
SIO_000300: -4.733e0

DP
type: SiteQuality
SIO_000300: 3.760377e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.75e0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e0

MQ
type: SiteQuality
SIO_000300: 4.788e1

FS
type: SiteQuality
SIO_000300: 7.331e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

QD
type: SiteQuality
SIO_000300: 1.755e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-5
allele num: 65840
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
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allele num: 11574
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MQ
type: SiteQuality
SIO_000300: 4.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.277e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.761282e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65862
num of homozygotes: 0

South Asian
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allele num: 16512
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East Asian
type: Population
allele count: 0
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allele num: 8650
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DP
type: SiteQuality
SIO_000300: 3.761726e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.415e1

FS
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 4.024e1

VQSLOD
type: SiteQuality
SIO_000300: -2.436e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517220452131695e-5
allele num: 65910
num of homozygotes: 0

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

South Asian
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.254e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.504e0

DP
type: SiteQuality
SIO_000300: 3.762969e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.052e0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9902
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Latino
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allele count: 0
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allele num: 11576
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 0
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Other
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 1.427e0

MQ
type: SiteQuality
SIO_000300: 4.255e1

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.354e0

VQSLOD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.530079729403237e-5
allele num: 66224
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 1
allele frequency: 1.003210272873194e-4
allele num: 9968
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 3.769983e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

MQ
type: SiteQuality
SIO_000300: 4.17e1

QD
type: SiteQuality
SIO_000300: 1.835e1

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

Latino
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East Asian
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

QD
type: SiteQuality
SIO_000300: 1.835e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 4.17e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Finnish)
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South Asian
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Latino
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allele num: 11576
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African
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allele count: 1
allele frequency: 9.996001599360256e-5
allele num: 10004
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Other
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FS
type: SiteQuality
SIO_000300: 1.831e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.770699e6

MQ
type: SiteQuality
SIO_000300: 4.35e1

VQSLOD
type: SiteQuality
SIO_000300: -9.762e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.086e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.012229652388698e-5
allele num: 66396
num of homozygotes: 0

African
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Latino
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allele num: 11576
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

DP
type: SiteQuality
SIO_000300: 3.772109e6

MQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.768e0

MQ
type: SiteQuality
SIO_000300: 4.411e1

European (Finnish)
type: Population
allele count: 283
allele frequency: 4.321930360415394e-2
allele num: 6548
num of homozygotes: 0

Other
type: Population
allele count: 71
allele frequency: 7.959641255605381e-2
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African
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allele count: 394
allele frequency: 3.917279777291708e-2
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East Asian
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allele count: 30
allele frequency: 3.471418653089562e-3
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European (Non-Finnish)
type: Population
allele count: 6834
allele frequency: 1.059863523573201e-1
allele num: 64480
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South Asian
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allele count: 428
allele frequency: 2.619659689068429e-2
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -7.664e0

FS
type: SiteQuality
SIO_000300: 2.4922e1

BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.71e-2

DP
type: SiteQuality
SIO_000300: 4.163893e6

MQ
type: SiteQuality
SIO_000300: 4.58e1

MQRankSum
type: SiteQuality
SIO_000300: -5.495e0

East Asian
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allele frequency: 2.312673450508788e-4
allele num: 8648
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European (Non-Finnish)
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European (Finnish)
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allele count: 0
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Latino
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African
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Other
type: Population
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

VQSLOD
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.562e1

Latino
type: Population
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Other
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African
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.141e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.795e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 8.135999999999999e0

MQ
type: SiteQuality
SIO_000300: 4.494e1

VQSLOD
type: SiteQuality
SIO_000300: -3.669e0

DP
type: SiteQuality
SIO_000300: 3.964427e6

QD
type: SiteQuality
SIO_000300: 1.252e1

Other
type: Population
allele count: 44
allele frequency: 5.02283105022831e-2
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 384
allele frequency: 3.417586329654682e-2
allele num: 11236
num of homozygotes: 0

African
type: Population
allele count: 153
allele frequency: 1.499118165784832e-2
allele num: 10206
num of homozygotes: 0

South Asian
type: Population
allele count: 247
allele frequency: 1.504996344138435e-2
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4252
allele frequency: 6.70556694527677e-2
allele num: 63410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 138
allele frequency: 2.13490099009901e-2
allele num: 6464
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.0595e1

QD
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: -8.054e0

VQSLOD
type: SiteQuality
SIO_000300: -1.525e1

DP
type: SiteQuality
SIO_000300: 4.005115e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.361e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.62e-2

MQ
type: SiteQuality
SIO_000300: 4.595e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 66638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 3.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.798999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.868278e6

MQ
type: SiteQuality
SIO_000300: 5.192e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

MQ
type: SiteQuality
SIO_000300: 4.678e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -2.007e0

FS
type: SiteQuality
SIO_000300: 4.91e-1

DP
type: SiteQuality
SIO_000300: 3.868137e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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MQ
type: SiteQuality
SIO_000300: 4.703e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.778e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

FS
type: SiteQuality
SIO_000300: 1.214e0

MQRankSum
type: SiteQuality
SIO_000300: 8.9e0

QD
type: SiteQuality
SIO_000300: 1.362e1

VQSLOD
type: SiteQuality
SIO_000300: -9.993e0

DP
type: SiteQuality
SIO_000300: 3.868427e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.265e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.154e0

QD
type: SiteQuality
SIO_000300: 1.205e1

DP
type: SiteQuality
SIO_000300: 3.868319e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.293e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e0

FS
type: SiteQuality
SIO_000300: 5.79e-1

DP
type: SiteQuality
SIO_000300: 3.868538e6

VQSLOD
type: SiteQuality
SIO_000300: -5.273e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 4.734e1

QD
type: SiteQuality
SIO_000300: 1.407e1

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500990217847926e-5
allele num: 66652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 6.2e-1

MQ
type: SiteQuality
SIO_000300: 4.989e1

VQSLOD
type: SiteQuality
SIO_000300: -9.824999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.351e0

FS
type: SiteQuality
SIO_000300: 2.2469e1

MQRankSum
type: SiteQuality
SIO_000300: -7.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

DP
type: SiteQuality
SIO_000300: 3.868291e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.163355687713527e-5
allele num: 63224
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.206e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.638e0

MQ
type: SiteQuality
SIO_000300: 4.595e1

FS
type: SiteQuality
SIO_000300: 3.2164e1

QD
type: SiteQuality
SIO_000300: 2.11e0

DP
type: SiteQuality
SIO_000300: 3.906089e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

European (Finnish)
type: Population
allele count: 104
allele frequency: 1.614906832298137e-2
allele num: 6440
num of homozygotes: 0

South Asian
type: Population
allele count: 173
allele frequency: 1.054106751157689e-2
allele num: 16412
num of homozygotes: 0

Other
type: Population
allele count: 26
allele frequency: 2.981651376146789e-2
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 103
allele frequency: 1.006645817044566e-2
allele num: 10232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2997
allele frequency: 4.740288498038719e-2
allele num: 63224
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 1.737317581653926e-3
allele num: 8634
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.638e0

MQ
type: SiteQuality
SIO_000300: 4.595e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.206e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

FS
type: SiteQuality
SIO_000300: 3.2164e1

QD
type: SiteQuality
SIO_000300: 2.11e0

DP
type: SiteQuality
SIO_000300: 3.906089e6

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.797e-1

FS
type: SiteQuality
SIO_000300: 5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

MQRankSum
type: SiteQuality
SIO_000300: -1.761e0

DP
type: SiteQuality
SIO_000300: 3.649404e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.116e0

MQ
type: SiteQuality
SIO_000300: 4.682e1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.08e0

FS
type: SiteQuality
SIO_000300: 4.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.149e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.31e0

QD
type: SiteQuality
SIO_000300: 1.453e1

DP
type: SiteQuality
SIO_000300: 3.645342e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 4.514e1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

MQ
type: SiteQuality
SIO_000300: 4.38e1

QD
type: SiteQuality
SIO_000300: 1.183e1

FS
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.15e0

DP
type: SiteQuality
SIO_000300: 3.646377e6

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 4.38e1

FS
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

DP
type: SiteQuality
SIO_000300: 3.646377e6

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.033e0

FS
type: SiteQuality
SIO_000300: 8.172000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.643431e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.914e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.089e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQ
type: SiteQuality
SIO_000300: 4.241e1

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: 1.570845114671693e-5
allele num: 63660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.52e0

VQSLOD
type: SiteQuality
SIO_000300: -9.898999999999999e0

MQ
type: SiteQuality
SIO_000300: 4.457e1

MQRankSum
type: SiteQuality
SIO_000300: -6.065e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.47e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

FS
type: SiteQuality
SIO_000300: 3.3517e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

DP
type: SiteQuality
SIO_000300: 3.672497e6

African
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allele count: 127
allele frequency: 1.242904678019182e-2
allele num: 10218
num of homozygotes: 1

South Asian
type: Population
allele count: 242
allele frequency: 1.47309471633796e-2
allele num: 16428
num of homozygotes: 0

East Asian
type: Population
allele count: 18
allele frequency: 2.086230876216968e-3
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3360
allele frequency: 5.27803958529689e-2
allele num: 63660
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 119
allele frequency: 1.827956989247312e-2
allele num: 6510
num of homozygotes: 0

Other
type: Population
allele count: 24
allele frequency: 2.714932126696833e-2
allele num: 884
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FS
type: SiteQuality
SIO_000300: 3.3517e1

QD
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQ
type: SiteQuality
SIO_000300: 4.457e1

MQRankSum
type: SiteQuality
SIO_000300: -6.065e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

DP
type: SiteQuality
SIO_000300: 3.672497e6

VQSLOD
type: SiteQuality
SIO_000300: -9.898999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.47e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
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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
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allele num: 16512
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East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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VQSLOD
type: SiteQuality
SIO_000300: -1.635e0

QD
type: SiteQuality
SIO_000300: 1.566e1

MQ
type: SiteQuality
SIO_000300: 4.994e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.923e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 5.31e-1

DP
type: SiteQuality
SIO_000300: 3.126226e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10254
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Latino
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: 908
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
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East Asian
type: Population
allele count: 0
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allele num: 8648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.836e0

DP
type: SiteQuality
SIO_000300: 3.123491e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.468e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.595e0

QD
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: 6.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 4.687e1

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10254
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 4.58e1

VQSLOD
type: SiteQuality
SIO_000300: -3.483e0

FS
type: SiteQuality
SIO_000300: 2.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.47e-1

QD
type: SiteQuality
SIO_000300: 1.455e1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

DP
type: SiteQuality
SIO_000300: 3.123418e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011050555538827e-5
allele num: 66422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 4.664e1

QD
type: SiteQuality
SIO_000300: 1.347e1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e0

FS
type: SiteQuality
SIO_000300: 1.768e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.468e0

DP
type: SiteQuality
SIO_000300: 3.120944e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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African
type: Population
allele count: 3
allele frequency: 2.935995302407516e-4
allele num: 10218
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VQSLOD
type: SiteQuality
SIO_000300: -1.248e0

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.454e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
SIO_000300: 3.120279e6

QD
type: SiteQuality
SIO_000300: 1.28e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

MQ
type: SiteQuality
SIO_000300: 4.299e1

African
type: Population
allele count: 0
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East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 3.116341e6

FS
type: SiteQuality
SIO_000300: 4.362e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.331e0

QD
type: SiteQuality
SIO_000300: 1.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

MQ
type: SiteQuality
SIO_000300: 4.444e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66306
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.11591e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.928e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 4.556e1

VQSLOD
type: SiteQuality
SIO_000300: -3.449e0

MQRankSum
type: SiteQuality
SIO_000300: -2.826e0

QD
type: SiteQuality
SIO_000300: 1.12e1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10158
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VQSLOD
type: SiteQuality
SIO_000300: -2.486e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 4.619e1

FS
type: SiteQuality
SIO_000300: 7.0297e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.056e0

QD
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

DP
type: SiteQuality
SIO_000300: 3.115659e6

MQRankSum
type: SiteQuality
SIO_000300: -2.916e0

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

East Asian
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allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10138
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: 902
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DP
type: SiteQuality
SIO_000300: 3.115072e6

MQRankSum
type: SiteQuality
SIO_000300: -1.582e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 4.469e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.145e0

QD
type: SiteQuality
SIO_000300: 1.264e1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.022883226020979e-5
allele num: 66162
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
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South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
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Other
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 4.411e1

MQRankSum
type: SiteQuality
SIO_000300: -1.598e0

DP
type: SiteQuality
SIO_000300: 3.113352e6

VQSLOD
type: SiteQuality
SIO_000300: -2.139e0

FS
type: SiteQuality
SIO_000300: 1.884e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.028192471913515e-5
allele num: 66046
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
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Other
type: Population
allele count: 0
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allele num: 902
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 3.111214e6

QD
type: SiteQuality
SIO_000300: 1.066e1

VQSLOD
type: SiteQuality
SIO_000300: -1.084e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

FS
type: SiteQuality
SIO_000300: 2.035e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.133e0

MQ
type: SiteQuality
SIO_000300: 4.64e1

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.553872309420444e-5
allele num: 65878
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

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

FS
type: SiteQuality
SIO_000300: 1.122e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

QD
type: SiteQuality
SIO_000300: 1.205e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

DP
type: SiteQuality
SIO_000300: 3.110688e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 4.23e1

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

African
type: Population
allele count: 1
allele frequency: 1.009693053311793e-4
allele num: 9904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035914872946963e-5
allele num: 65878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.205e1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

FS
type: SiteQuality
SIO_000300: 1.122e0

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQ
type: SiteQuality
SIO_000300: 4.23e1

DP
type: SiteQuality
SIO_000300: 3.110688e6

Other
type: Population
allele count: 58
allele frequency: 6.636155606407322e-2
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5269
allele frequency: 8.339928456108139e-2
allele num: 63178
num of homozygotes: 0

African
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allele count: 169
allele frequency: 1.735112936344969e-2
allele num: 9740
num of homozygotes: 0

Latino
type: Population
allele count: 437
allele frequency: 3.874113475177305e-2
allele num: 11280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 230
allele frequency: 3.536285362853629e-2
allele num: 6504
num of homozygotes: 0

South Asian
type: Population
allele count: 399
allele frequency: 2.443056576047024e-2
allele num: 16332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -4.344e0

MQ
type: SiteQuality
SIO_000300: 4.129e1

FS
type: SiteQuality
SIO_000300: 5.1748e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.83e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.491e1

DP
type: SiteQuality
SIO_000300: 3.082013e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.18e-1

Latino
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allele count: 0
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allele num: 11576
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52151421094273e-5
allele num: 65724
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.283e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 4.559e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 2.102664e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

FS
type: SiteQuality
SIO_000300: 6.496e0

VQSLOD
type: SiteQuality
SIO_000300: -2.218e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523832744118006e-5
allele num: 65624
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.344e1

DP
type: SiteQuality
SIO_000300: 2.102375e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.229e0

MQRankSum
type: SiteQuality
SIO_000300: -1.368e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.325e0

FS
type: SiteQuality
SIO_000300: 1.991e0

QD
type: SiteQuality
SIO_000300: 7.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

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: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65670
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

DP
type: SiteQuality
SIO_000300: 2.102055e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

FS
type: SiteQuality
SIO_000300: 2.52e0

VQSLOD
type: SiteQuality
SIO_000300: -2.259e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 4.108e1

QD
type: SiteQuality
SIO_000300: 1.079e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 1.522765341860819e-5
allele num: 65670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.079e1

FS
type: SiteQuality
SIO_000300: 2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.259e0

MQ
type: SiteQuality
SIO_000300: 4.108e1

DP
type: SiteQuality
SIO_000300: 2.102055e6

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.441218859378217e-3
allele num: 9714
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

DP
type: SiteQuality
SIO_000300: 2.100607e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.499e0

MQ
type: SiteQuality
SIO_000300: 4.077e1

QD
type: SiteQuality
SIO_000300: 1.207e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

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

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 3.987e1

VQSLOD
type: SiteQuality
SIO_000300: -3.232e0

DP
type: SiteQuality
SIO_000300: 2.097623e6

FS
type: SiteQuality
SIO_000300: 2.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.032e0

QD
type: SiteQuality
SIO_000300: 1.547e1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.85e0

DP
type: SiteQuality
SIO_000300: 2.097221e6

FS
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 3.82e1

QD
type: SiteQuality
SIO_000300: 1.043e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.95e-1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65380
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.092e1

FS
type: SiteQuality
SIO_000300: 1.184e0

DP
type: SiteQuality
SIO_000300: 2.09666e6

VQSLOD
type: SiteQuality
SIO_000300: -2.045e0

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-1