1-203024687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024687
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024687
    reference: chr 1
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1894C>T
  hgvsp: ENST00000367240.2:c.1894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.439C>T
  hgvsp: ENST00000599966.1:c.439C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1193C>T
  hgvsp: ENST00000600426.1:c.1193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1078C>T
  hgvsp: ENST00000414050.2:c.1078C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.439C>T
  hgvsp: ENST00000295706.4:c.439C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.344C>T
  hgvsp: ENST00000599514.1:c.344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1891C>T
  hgvsp: ENST00000447715.2:c.1891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.439C>T
  hgvsp: ENST00000272198.6:c.439C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu147Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-203024691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024691
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024691
    reference: chr 1
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1197C>T
  hgvsp: ENSP00000470427.1:p.Thr400Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1895C>T
  hgvsp: ENSP00000402576.1:p.Thr632Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1082C>T
  hgvsp: ENSP00000400379.2:p.Thr361Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.348C>T
  hgvsp: ENSP00000472251.1:p.Thr117Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.443C>T
  hgvsp: ENSP00000295706.4:p.Thr148Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.443C>T
  hgvsp: ENSP00000471264.1:p.Thr148Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1898C>T
  hgvsp: ENSP00000356209.2:p.Thr633Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.443C>T
  hgvsp: ENSP00000272198.6:p.Thr148Met
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr148Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

1-203024692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024692
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024692
    reference: chr 1
allele count: 2815
allele frequency: 2.33439479881912e-2
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.444G>A
  hgvsp: ENST00000272198.6:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.444G>A
  hgvsp: ENST00000599966.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1083G>A
  hgvsp: ENST00000414050.2:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1899G>A
  hgvsp: ENST00000367240.2:c.1899G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1896G>A
  hgvsp: ENST00000447715.2:c.1896G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.444G>A
  hgvsp: ENST00000295706.4:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.349G>A
  hgvsp: ENST00000599514.1:c.349G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1198G>A
  hgvsp: ENST00000600426.1:c.1198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 2.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 7.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 591
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 3.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.75e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 4.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 5.25e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 6.25e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 8.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 3.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 6.75e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 5.75e1
  variant carriers: 255
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr148Thr
num of homozygotes: 39
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

1-203024701-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024701
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024701
    reference: chr 1
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1908C>G
  hgvsp: ENST00000367240.2:c.1908C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.453C>G
  hgvsp: ENST00000272198.6:c.453C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.358C>G
  hgvsp: ENST00000599514.1:c.358C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.453C>G
  hgvsp: ENST00000599966.1:c.453C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.453C>G
  hgvsp: ENST00000295706.4:c.453C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1092C>G
  hgvsp: ENST00000414050.2:c.1092C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1905C>G
  hgvsp: ENST00000447715.2:c.1905C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1207C>G
  hgvsp: ENST00000600426.1:c.1207C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser151Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-203024710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024710
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024710
    reference: chr 1
allele count: 16
allele frequency: 1.327272123967216e-4
allele num: 120548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1101C>T
  hgvsp: ENST00000414050.2:c.1101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1914C>T
  hgvsp: ENST00000447715.2:c.1914C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.462C>T
  hgvsp: ENST00000272198.6:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.367C>T
  hgvsp: ENST00000599514.1:c.367C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.462C>T
  hgvsp: ENST00000599966.1:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.462C>T
  hgvsp: ENST00000295706.4:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1917C>T
  hgvsp: ENST00000367240.2:c.1917C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1216C>T
  hgvsp: ENST00000600426.1:c.1216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser154Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-203024711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024711
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024711
    reference: chr 1
allele count: 2
allele frequency: 1.65892501658925e-5
allele num: 120560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.463G>A
  hgvsp: ENSP00000272198.6:p.Ala155Thr
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1915G>A
  hgvsp: ENSP00000402576.1:p.Ala639Thr
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.463G>A
  hgvsp: ENSP00000295706.4:p.Ala155Thr
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1217G>A
  hgvsp: ENSP00000470427.1:p.Ala407Thr
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1102G>A
  hgvsp: ENSP00000400379.2:p.Ala368Thr
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.368G>A
  hgvsp: ENSP00000472251.1:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.463G>A
  hgvsp: ENSP00000471264.1:p.Ala155Thr
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1918G>A
  hgvsp: ENSP00000356209.2:p.Ala640Thr
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala155Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-203024712-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024712
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024712
    reference: chr 1
allele count: 71
allele frequency: 5.889867768320807e-4
allele num: 120546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.464C>T
  hgvsp: ENSP00000471264.1:p.Ala155Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.464C>T
  hgvsp: ENSP00000295706.4:p.Ala155Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.369C>T
  hgvsp: ENSP00000472251.1:p.Ala124Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.464C>T
  hgvsp: ENSP00000272198.6:p.Ala155Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1919C>T
  hgvsp: ENSP00000356209.2:p.Ala640Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1916C>T
  hgvsp: ENSP00000402576.1:p.Ala639Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1103C>T
  hgvsp: ENSP00000400379.2:p.Ala368Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1218C>T
  hgvsp: ENSP00000470427.1:p.Ala407Val
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala155Val
num of homozygotes: 1
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

1-203024713-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024713
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024713
    reference: chr 1
allele count: 4
allele frequency: 3.318290416777277e-5
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.465G>A
  hgvsp: ENST00000295706.4:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.465G>A
  hgvsp: ENST00000599966.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1920G>A
  hgvsp: ENST00000367240.2:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1219G>A
  hgvsp: ENST00000600426.1:c.1219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.370G>A
  hgvsp: ENST00000599514.1:c.370G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1917G>A
  hgvsp: ENST00000447715.2:c.1917G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.465G>A
  hgvsp: ENST00000272198.6:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1104G>A
  hgvsp: ENST00000414050.2:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala155Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-203024718-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024718
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024718
    reference: chr 1
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1109C>G
  hgvsp: ENSP00000400379.2:p.Pro370Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.470C>G
  hgvsp: ENSP00000272198.6:p.Pro157Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1224C>G
  hgvsp: ENSP00000470427.1:p.Pro409Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.375C>G
  hgvsp: ENSP00000472251.1:p.Pro126Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.470C>G
  hgvsp: ENSP00000471264.1:p.Pro157Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1922C>G
  hgvsp: ENSP00000402576.1:p.Pro641Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.470C>G
  hgvsp: ENSP00000295706.4:p.Pro157Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1925C>G
  hgvsp: ENSP00000356209.2:p.Pro642Arg
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37366
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro157Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

1-203024722-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024722
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024722
    reference: chr 1
allele count: 7
allele frequency: 5.807682734588899e-5
allele num: 120530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1929A>T
  hgvsp: ENST00000367240.2:c.1929A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.474A>T
  hgvsp: ENST00000295706.4:c.474A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.379A>T
  hgvsp: ENST00000599514.1:c.379A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1113A>T
  hgvsp: ENST00000414050.2:c.1113A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1926A>T
  hgvsp: ENST00000447715.2:c.1926A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.474A>T
  hgvsp: ENST00000272198.6:c.474A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1228A>T
  hgvsp: ENST00000600426.1:c.1228A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.474A>T
  hgvsp: ENST00000599966.1:c.474A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro158Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

1-203024728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024728
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024728
    reference: chr 1
allele count: 7
allele frequency: 5.809225049378413e-5
allele num: 120498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1935C>T
  hgvsp: ENST00000367240.2:c.1935C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1234C>T
  hgvsp: ENST00000600426.1:c.1234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1119C>T
  hgvsp: ENST00000414050.2:c.1119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.385C>T
  hgvsp: ENST00000599514.1:c.385C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.480C>T
  hgvsp: ENST00000599966.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.480C>T
  hgvsp: ENST00000272198.6:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.480C>T
  hgvsp: ENST00000295706.4:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1932C>T
  hgvsp: ENST00000447715.2:c.1932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37366
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser160Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

1-203024729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024729
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024729
    reference: chr 1
allele count: 2
allele frequency: 1.659751037344398e-5
allele num: 120500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1120G>A
  hgvsp: ENSP00000400379.2:p.Gly374Ser
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.481G>A
  hgvsp: ENSP00000471264.1:p.Gly161Ser
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1936G>A
  hgvsp: ENSP00000356209.2:p.Gly646Ser
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.481G>A
  hgvsp: ENSP00000272198.6:p.Gly161Ser
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1933G>A
  hgvsp: ENSP00000402576.1:p.Gly645Ser
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.481G>A
  hgvsp: ENSP00000295706.4:p.Gly161Ser
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1235G>A
  hgvsp: ENSP00000470427.1:p.Gly413Ser
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.386G>A
  hgvsp: ENSP00000472251.1:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37363
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly161Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-203024732-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024732
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024732
    reference: chr 1
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1238C>T
  hgvsp: ENSP00000470427.1:p.Arg414Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.389C>T
  hgvsp: ENSP00000472251.1:p.Arg131Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1123C>T
  hgvsp: ENSP00000400379.2:p.Arg375Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1939C>T
  hgvsp: ENSP00000356209.2:p.Arg647Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1936C>T
  hgvsp: ENSP00000402576.1:p.Arg646Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.484C>T
  hgvsp: ENSP00000272198.6:p.Arg162Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.484C>T
  hgvsp: ENSP00000295706.4:p.Arg162Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.484C>T
  hgvsp: ENSP00000471264.1:p.Arg162Cys
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg162Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-203024733-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024733
    reference: chr 1
allele count: 24
allele frequency: 1.991866544941489e-4
allele num: 120490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.485G>A
  hgvsp: ENSP00000295706.4:p.Arg162His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1940G>A
  hgvsp: ENSP00000356209.2:p.Arg647His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.485G>A
  hgvsp: ENSP00000272198.6:p.Arg162His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.390G>A
  hgvsp: ENSP00000472251.1:p.Arg131His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1124G>A
  hgvsp: ENSP00000400379.2:p.Arg375His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1239G>A
  hgvsp: ENSP00000470427.1:p.Arg414His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1937G>A
  hgvsp: ENSP00000402576.1:p.Arg646His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.485G>A
  hgvsp: ENSP00000471264.1:p.Arg162His
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg162His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

1-203024736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024736
    reference: chr 1
allele count: 1
allele frequency: 8.299168423323983e-6
allele num: 120494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.488C>T
  hgvsp: ENSP00000295706.4:p.Ser163Phe
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1940C>T
  hgvsp: ENSP00000402576.1:p.Ser647Phe
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.488C>T
  hgvsp: ENSP00000272198.6:p.Ser163Phe
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1127C>T
  hgvsp: ENSP00000400379.2:p.Ser376Phe
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.393C>T
  hgvsp: ENSP00000472251.1:p.Ser132Phe
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.488C>T
  hgvsp: ENSP00000471264.1:p.Ser163Phe
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1943C>T
  hgvsp: ENSP00000356209.2:p.Ser648Phe
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1242C>T
  hgvsp: ENSP00000470427.1:p.Ser415Phe
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser163Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-203024749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024749
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024749
    reference: chr 1
allele count: 99
allele frequency: 8.21781356354279e-4
allele num: 120470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1140C>T
  hgvsp: ENST00000414050.2:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.501C>T
  hgvsp: ENST00000295706.4:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.406C>T
  hgvsp: ENST00000599514.1:c.406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1953C>T
  hgvsp: ENST00000447715.2:c.1953C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.501C>T
  hgvsp: ENST00000272198.6:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1956C>T
  hgvsp: ENST00000367240.2:c.1956C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.501C>T
  hgvsp: ENST00000599966.1:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1255C>T
  hgvsp: ENST00000600426.1:c.1255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu167Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

1-203024756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024756
    reference: chr 1
allele count: 15
allele frequency: 1.245454092562148e-4
allele num: 120438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.508C>T
  hgvsp: ENSP00000471264.1:p.Arg170Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1262C>T
  hgvsp: ENSP00000470427.1:p.Arg422Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1147C>T
  hgvsp: ENSP00000400379.2:p.Arg383Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1960C>T
  hgvsp: ENSP00000402576.1:p.Arg654Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.413C>T
  hgvsp: ENSP00000472251.1:p.Arg139Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1963C>T
  hgvsp: ENSP00000356209.2:p.Arg655Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.508C>T
  hgvsp: ENSP00000295706.4:p.Arg170Cys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.508C>T
  hgvsp: ENSP00000272198.6:p.Arg170Cys
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37393
  bin: 9.75e1
  variant carriers: 15
hgvs: p.Arg170Cys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-203024757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024757
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024757
    reference: chr 1
allele count: 6
allele frequency: 4.981650919114595e-5
allele num: 120442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1148G>A
  hgvsp: ENSP00000400379.2:p.Arg383His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1263G>A
  hgvsp: ENSP00000470427.1:p.Arg422His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1964G>A
  hgvsp: ENSP00000356209.2:p.Arg655His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1961G>A
  hgvsp: ENSP00000402576.1:p.Arg654His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.414G>A
  hgvsp: ENSP00000472251.1:p.Arg139His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.509G>A
  hgvsp: ENSP00000295706.4:p.Arg170His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.509G>A
  hgvsp: ENSP00000471264.1:p.Arg170His
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.509G>A
  hgvsp: ENSP00000272198.6:p.Arg170His
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg170His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

1-203024758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024758
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024758
    reference: chr 1
allele count: 1
allele frequency: 8.30357884248111e-6
allele num: 120430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1149C>T
  hgvsp: ENST00000414050.2:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.510C>T
  hgvsp: ENST00000295706.4:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1965C>T
  hgvsp: ENST00000367240.2:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.415C>T
  hgvsp: ENST00000599514.1:c.415C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1962C>T
  hgvsp: ENST00000447715.2:c.1962C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1264C>T
  hgvsp: ENST00000600426.1:c.1264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.510C>T
  hgvsp: ENST00000599966.1:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.510C>T
  hgvsp: ENST00000272198.6:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg170Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-203024759-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024759
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024759
    reference: chr 1
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1150A>G
  hgvsp: ENSP00000400379.2:p.Ser384Gly
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1966A>G
  hgvsp: ENSP00000356209.2:p.Ser656Gly
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1963A>G
  hgvsp: ENSP00000402576.1:p.Ser655Gly
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.511A>G
  hgvsp: ENSP00000471264.1:p.Ser171Gly
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.511A>G
  hgvsp: ENSP00000295706.4:p.Ser171Gly
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.416A>G
  hgvsp: ENSP00000472251.1:p.Ser140Gly
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.511A>G
  hgvsp: ENSP00000272198.6:p.Ser171Gly
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1265A>G
  hgvsp: ENSP00000470427.1:p.Ser423Gly
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser171Gly
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-203024766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024766
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024766
    reference: chr 1
allele count: 1
allele frequency: 8.304544246611745e-6
allele num: 120416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1970C>T
  hgvsp: ENSP00000402576.1:p.Ala657Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.518C>T
  hgvsp: ENSP00000295706.4:p.Ala173Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.518C>T
  hgvsp: ENSP00000272198.6:p.Ala173Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1157C>T
  hgvsp: ENSP00000400379.2:p.Ala386Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1272C>T
  hgvsp: ENSP00000470427.1:p.Ala425Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1973C>T
  hgvsp: ENSP00000356209.2:p.Ala658Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.518C>T
  hgvsp: ENSP00000471264.1:p.Ala173Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.423C>T
  hgvsp: ENSP00000472251.1:p.Ala142Val
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala173Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

1-203024767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024767
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024767
    reference: chr 1
allele count: 18313
allele frequency: 1.521796938622879e-1
allele num: 120338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.519C>T
  hgvsp: ENST00000295706.4:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1158C>T
  hgvsp: ENST00000414050.2:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1273C>T
  hgvsp: ENST00000600426.1:c.1273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.424C>T
  hgvsp: ENST00000599514.1:c.424C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.519C>T
  hgvsp: ENST00000599966.1:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1971C>T
  hgvsp: ENST00000447715.2:c.1971C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.519C>T
  hgvsp: ENST00000272198.6:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1974C>T
  hgvsp: ENST00000367240.2:c.1974C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 9.25e1
  variant carriers: 766
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 2.75e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 3.75e1
  variant carriers: 508
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 4.25e1
  variant carriers: 713
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 6.25e1
  variant carriers: 1369
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 6.75e1
  variant carriers: 1381
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 867
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 7.25e1
  variant carriers: 1318
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 3.25e1
  variant carriers: 424
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 5.75e1
  variant carriers: 1284
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 5.25e1
  variant carriers: 1113
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 7.75e1
  variant carriers: 1228
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 8.25e1
  variant carriers: 1091
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 9.75e1
  variant carriers: 3292
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.75e1
  variant carriers: 845
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 8.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 6320
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 9
hgvs: p.Ala173Ala
num of homozygotes: 1536
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

1-203024769-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024769
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024769
    reference: chr 1
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.521A>G
  hgvsp: ENSP00000272198.6:p.Gln174Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1160A>G
  hgvsp: ENSP00000400379.2:p.Gln387Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.521A>G
  hgvsp: ENSP00000471264.1:p.Gln174Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.1976A>G
  hgvsp: ENSP00000356209.2:p.Gln659Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.426A>G
  hgvsp: ENSP00000472251.1:p.Gln143Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.1973A>G
  hgvsp: ENSP00000402576.1:p.Gln658Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1275A>G
  hgvsp: ENSP00000470427.1:p.Gln426Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.521A>G
  hgvsp: ENSP00000295706.4:p.Gln174Arg
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln174Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-203024797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024797
    reference: chr 1
allele count: 2
allele frequency: 1.665889251682548e-5
allele num: 120056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1188C>T
  hgvsp: ENST00000414050.2:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.549C>T
  hgvsp: ENST00000295706.4:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2001C>T
  hgvsp: ENST00000447715.2:c.2001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2004C>T
  hgvsp: ENST00000367240.2:c.2004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.454C>T
  hgvsp: ENST00000599514.1:c.454C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.549C>T
  hgvsp: ENST00000272198.6:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.549C>T
  hgvsp: ENST00000599966.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1303C>T
  hgvsp: ENST00000600426.1:c.1303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr183Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-203024820-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024820
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024820
    reference: chr 1
allele count: 4
allele frequency: 3.339678722906856e-5
allele num: 119772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.457+20C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2004+20C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.552+20C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.552+20C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2007+20C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1306+20C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1191+20C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.552+20C>A
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37741
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

1-203024835-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024835
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024835
    reference: chr 1
allele count: 3
allele frequency: 2.509746181002895e-5
allele num: 119534
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1191+35T>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2004+35T>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1306+35T>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2007+35T>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.552+35T>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.457+35T>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.552+35T>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.552+35T>G
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-203024844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024844
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024844
    reference: chr 1
allele count: 191
allele frequency: 1.604691411960412e-3
allele num: 119026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.457+44C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2007+44C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1191+44C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.552+44C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.552+44C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1306+44C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.552+44C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2004+44C>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 4.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-203024847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203024847
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203024847
    reference: chr 1
allele count: 4
allele frequency: 3.363662355572747e-5
allele num: 118918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.457+47C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.552+47C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2007+47C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1191+47C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1306+47C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.552+47C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.552+47C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2004+47C>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3774
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-203025199-A-AGGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025203
    reference: chr 1
allele count: 1
allele frequency: 8.43668269636379e-6
allele num: 118530
alternate allele: AGGGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.553-48_553-45dupGGGC
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.553-48_553-45dupGGGC
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1307-48_1307-45dupGGGC
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2008-48_2008-45dupGGGC
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.458-48_458-45dupGGGC
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1192-48_1192-45dupGGGC
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2005-48_2005-45dupGGGC
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.553-48_553-45dupGGGC
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13801
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10527
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

1-203025204-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025204
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025204
    reference: chr 1
allele count: 3
allele frequency: 2.522322554608283e-5
allele num: 118938
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.553-44A>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1192-44A>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2005-44A>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.553-44A>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1307-44A>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.553-44A>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2008-44A>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.458-44A>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17163
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-203025209-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025209
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025209
    reference: chr 1
allele count: 24937
allele frequency: 2.098367553012454e-1
allele num: 118840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2005-39G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.553-39G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1192-39G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.553-39G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1307-39G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.458-39G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2008-39G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.553-39G>C
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.75e1
  variant carriers: 1213
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 1.25e1
  variant carriers: 548
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 3.75e1
  variant carriers: 2879
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 15999
  bin: 2.25e1
  variant carriers: 3165
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 8908
  bin: 3.25e1
  variant carriers: 3708
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 1.75e1
  variant carriers: 1663
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 9.75e1
  variant carriers: 572
genotype depth: GenotypeDepth
  all individuals: 12290
  bin: 2.75e1
  variant carriers: 3973
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 750
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.25e1
  variant carriers: 343
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 4.25e1
  variant carriers: 1963
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.75e1
  variant carriers: 469
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.75e1
  variant carriers: 169
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 9.25e1
  variant carriers: 173
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 13549
  bin: 6.25e1
  variant carriers: 163
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 17
num of homozygotes: 2794
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

1-203025214-T-TGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025214
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025216
    reference: chr 1
allele count: 1
allele frequency: 8.362322718758362e-6
allele num: 119584
alternate allele: TGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2008-32_2008-31dupAG
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.553-32_553-31dupAG
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.458-32_458-31dupAG
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.553-32_553-31dupAG
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2005-32_2005-31dupAG
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1192-32_1192-31dupAG
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.553-32_553-31dupAG
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1307-32_1307-31dupAG
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14210
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-203025221-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025221
    reference: chr 1
allele count: 1
allele frequency: 8.341118377152009e-6
allele num: 119888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1192-27G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.553-27G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.553-27G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2005-27G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.553-27G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2008-27G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.458-27G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1307-27G>C
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-203025231-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025231
    reference: chr 1
allele count: 1
allele frequency: 8.316146630297385e-6
allele num: 120248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2008-17A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1307-17A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2005-17A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1192-17A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.458-17A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.553-17A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.553-17A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.553-17A>G
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

1-203025233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025233
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025233
    reference: chr 1
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.553-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.553-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1307-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1192-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2005-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.458-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.553-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2008-15C>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11076
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-203025247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025247
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025247
    reference: chr 1
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.553-1G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2008-1G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1307-1G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2005-1G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.458-1G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.553-1G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1192-1G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.553-1G>A
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11074
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 8.75e1
  variant carriers: 0
hgvs: c.553-1G>A
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

1-203025250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025250
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025250
    reference: chr 1
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.555C>T
  hgvsp: ENST00000599966.1:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.555C>T
  hgvsp: ENST00000295706.4:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1194C>T
  hgvsp: ENST00000414050.2:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.460C>T
  hgvsp: ENST00000599514.1:c.460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.555C>T
  hgvsp: ENST00000272198.6:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1309C>T
  hgvsp: ENST00000600426.1:c.1309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2010C>T
  hgvsp: ENST00000367240.2:c.2010C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2007C>T
  hgvsp: ENST00000447715.2:c.2007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15720
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11073
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 7.25e1
  variant carriers: 0
hgvs: c.555C>T
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-203025268-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025268
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025268
    reference: chr 1
allele count: 2
allele frequency: 1.658622348277521e-5
allele num: 120582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2028T>C
  hgvsp: ENST00000367240.2:c.2028T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1212T>C
  hgvsp: ENST00000414050.2:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1327T>C
  hgvsp: ENST00000600426.1:c.1327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.573T>C
  hgvsp: ENST00000295706.4:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.478T>C
  hgvsp: ENST00000599514.1:c.478T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.573T>C
  hgvsp: ENST00000272198.6:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2025T>C
  hgvsp: ENST00000447715.2:c.2025T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.573T>C
  hgvsp: ENST00000599966.1:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His191His
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

1-203025278-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025278
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025278
    reference: chr 1
allele count: 3
allele frequency: 2.487727212418734e-5
allele num: 120592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2038C>G
  hgvsp: ENSP00000356209.2:p.Leu680Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.583C>G
  hgvsp: ENSP00000295706.4:p.Leu195Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1222C>G
  hgvsp: ENSP00000400379.2:p.Leu408Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.583C>G
  hgvsp: ENSP00000471264.1:p.Leu195Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1337C>G
  hgvsp: ENSP00000470427.1:p.Leu447Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.583C>G
  hgvsp: ENSP00000272198.6:p.Leu195Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.488C>G
  hgvsp: ENSP00000472251.1:p.Leu164Val
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2035C>G
  hgvsp: ENSP00000402576.1:p.Leu679Val
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu195Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-203025284-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025284
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025284
    reference: chr 1
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.493+1G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2043+1G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1227+1G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1342+1G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2040+1G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.588+1G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.588+1G>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.588+1G>C
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
hgvs: c.588+1G>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum

1-203025292-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025292
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025292
    reference: chr 1
allele count: 2
allele frequency: 1.658814942605003e-5
allele num: 120568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.493+9T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.588+9T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.588+9T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2040+9T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1227+9T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.588+9T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2043+9T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1342+9T>C
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum

1-203025303-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025303
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025303
    reference: chr 1
allele count: 3
allele frequency: 2.488924286923192e-5
allele num: 120534
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1342+20C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.493+20C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.588+20C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2043+20C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1227+20C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.588+20C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2040+20C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.588+20C>G
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11073
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-203025310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025310
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025310
    reference: chr 1
allele count: 2
allele frequency: 1.659310390601666e-5
allele num: 120532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1227+27C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.588+27C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.588+27C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.588+27C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1342+27C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.493+27C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2040+27C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2043+27C>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11072
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22286
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-203025314-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025314
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025314
    reference: chr 1
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.588+31C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.588+31C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.493+31C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.588+31C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2040+31C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1342+31C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1227+31C>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2043+31C>A
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

1-203025314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025314
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025314
    reference: chr 1
allele count: 984
allele frequency: 8.166788393864949e-3
allele num: 120488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.493+31C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2040+31C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.588+31C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1342+31C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1227+31C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.588+31C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2043+31C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.588+31C>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 3.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10053
  bin: 3.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 2.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 16228
  bin: 2.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 4.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 6
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

1-203025315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025315
    reference: chr 1
allele count: 35
allele frequency: 2.905335856825049e-4
allele num: 120468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.493+32G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1342+32G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2043+32G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.588+32G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2040+32G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1227+32G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.588+32G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.588+32G>A
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10116
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15652
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16091
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11104
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-203025316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025316
    reference: chr 1
allele count: 2
allele frequency: 1.659971448491086e-5
allele num: 120484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2043+33G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1342+33G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1227+33G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.588+33G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.588+33G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.588+33G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2040+33G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.493+33G>A
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-203025322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025322
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025322
    reference: chr 1
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1227+39C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.493+39C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1342+39C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2040+39C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.588+39C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2043+39C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.588+39C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.588+39C>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-203025329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025329
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025329
    reference: chr 1
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.493+46C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.588+46C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2043+46C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1342+46C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.588+46C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2040+46C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1227+46C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.588+46C>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-203025455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025455
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025455
    reference: chr 1
allele count: 2
allele frequency: 1.697360604260375e-5
allele num: 117830
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.589-48G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-125G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1343-48G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2041-48G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1228-48G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.589-48G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2044-48G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.589-48G>A
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-203025458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025458
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025458
    reference: chr 1
allele count: 2
allele frequency: 1.698110003566031e-5
allele num: 117778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2044-45C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.589-45C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-122C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1343-45C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.589-45C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2041-45C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1228-45C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.589-45C>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

1-203025459-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025459
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025459
    reference: chr 1
allele count: 1
allele frequency: 8.483203257550051e-6
allele num: 117880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.589-44G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.589-44G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-121G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2044-44G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1228-44G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.589-44G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2041-44G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1343-44G>A
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-203025467-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025467
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025467
    reference: chr 1
allele count: 9
allele frequency: 7.622467646859543e-5
allele num: 118072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2041-36T>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2044-36T>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1228-36T>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1343-36T>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-113T>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.589-36T>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.589-36T>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.589-36T>A
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

1-203025469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025469
    reference: chr 1
allele count: 3
allele frequency: 2.541209954766463e-5
allele num: 118054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-111C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.589-34C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.589-34C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.589-34C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1228-34C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2041-34C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1343-34C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2044-34C>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-203025474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025474
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025474
    reference: chr 1
allele count: 1
allele frequency: 8.454657670910904e-6
allele num: 118278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-106A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2041-29A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.589-29A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.589-29A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2044-29A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1228-29A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1343-29A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.589-29A>G
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

1-203025479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025479
    reference: chr 1
allele count: 1
allele frequency: 8.444804756114038e-6
allele num: 118416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2041-24C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1343-24C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-101C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.589-24C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2044-24C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1228-24C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.589-24C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.589-24C>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-203025483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025483
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025483
    reference: chr 1
allele count: 13
allele frequency: 1.097064929365896e-4
allele num: 118498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.589-20C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2041-20C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.589-20C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.589-20C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1343-20C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-97C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2044-20C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1228-20C>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-203025488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025488
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025488
    reference: chr 1
allele count: 20
allele frequency: 1.681661481543765e-4
allele num: 118930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.589-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1228-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-92C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.589-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2041-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.589-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2044-15C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1343-15C>T
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14893
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

1-203025492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025492
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025492
    reference: chr 1
allele count: 1
allele frequency: 8.391796180054379e-6
allele num: 119164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2041-11T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-88T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1228-11T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.589-11T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.589-11T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2044-11T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.589-11T>C
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1343-11T>C
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26936
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-203025500-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025500
    reference: chr 1
allele count: 1
allele frequency: 8.375349670848758e-6
allele num: 119398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.589-3C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.589-3C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2044-3C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2041-3C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-80C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.589-3C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1343-3C>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1228-3C>G
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
hgvs: c.589-3C>G
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-203025504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025504
    reference: chr 1
allele count: 1
allele frequency: 8.361204013377926e-6
allele num: 119600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1229C>T
  hgvsp: ENSP00000400379.2:p.Ser410Leu
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1344C>T
  hgvsp: ENSP00000470427.1:p.Ser449Leu
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.590C>T
  hgvsp: ENSP00000295706.4:p.Ser197Leu
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2042C>T
  hgvsp: ENSP00000402576.1:p.Ser681Leu
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2045C>T
  hgvsp: ENSP00000356209.2:p.Ser682Leu
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-76C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.590C>T
  hgvsp: ENSP00000272198.6:p.Ser197Leu
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.590C>T
  hgvsp: ENSP00000471264.1:p.Ser197Leu
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser197Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-203025505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025505
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025505
    reference: chr 1
allele count: 2
allele frequency: 1.670927531872943e-5
allele num: 119694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-75G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.591G>A
  hgvsp: ENST00000272198.6:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2046G>A
  hgvsp: ENST00000367240.2:c.2046G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1345G>A
  hgvsp: ENST00000600426.1:c.1345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.591G>A
  hgvsp: ENST00000599966.1:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1230G>A
  hgvsp: ENST00000414050.2:c.1230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.591G>A
  hgvsp: ENST00000295706.4:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2043G>A
  hgvsp: ENST00000447715.2:c.2043G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27334
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: c.591G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-203025515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025515
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025515
    reference: chr 1
allele count: 1
allele frequency: 8.327226700419692e-6
allele num: 120088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.601C>T
  hgvsp: ENSP00000471264.1:p.Arg201Trp
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.601C>T
  hgvsp: ENSP00000295706.4:p.Arg201Trp
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1355C>T
  hgvsp: ENSP00000470427.1:p.Arg453Trp
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-65C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1240C>T
  hgvsp: ENSP00000400379.2:p.Arg414Trp
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2053C>T
  hgvsp: ENSP00000402576.1:p.Arg685Trp
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.601C>T
  hgvsp: ENSP00000272198.6:p.Arg201Trp
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2056C>T
  hgvsp: ENSP00000356209.2:p.Arg686Trp
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27656
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg201Trp
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum

1-203025520-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025520
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025520
    reference: chr 1
allele count: 2
allele frequency: 1.662013030182157e-5
allele num: 120336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2061A>G
  hgvsp: ENST00000367240.2:c.2061A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2058A>G
  hgvsp: ENST00000447715.2:c.2058A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1360A>G
  hgvsp: ENST00000600426.1:c.1360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.606A>G
  hgvsp: ENST00000599966.1:c.606A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.606A>G
  hgvsp: ENST00000295706.4:c.606A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-60A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.606A>G
  hgvsp: ENST00000272198.6:c.606A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1245A>G
  hgvsp: ENST00000414050.2:c.1245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu202Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-203025526-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025526
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025526
    reference: chr 1
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.612C>A
  hgvsp: ENSP00000295706.4:p.Asn204Lys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2067C>A
  hgvsp: ENSP00000356209.2:p.Asn689Lys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.612C>A
  hgvsp: ENSP00000471264.1:p.Asn204Lys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1251C>A
  hgvsp: ENSP00000400379.2:p.Asn417Lys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.612C>A
  hgvsp: ENSP00000272198.6:p.Asn204Lys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2064C>A
  hgvsp: ENSP00000402576.1:p.Asn688Lys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1366C>A
  hgvsp: ENSP00000470427.1:p.Asn456Lys
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-54C>A
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn204Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

1-203025527-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025527
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025527
    reference: chr 1
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.613C>T
  hgvsp: ENSP00000295706.4:p.Arg205Ter
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-53C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1367C>T
  hgvsp: ENSP00000470427.1:p.Arg457Ter
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2065C>T
  hgvsp: ENSP00000402576.1:p.Arg689Ter
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.613C>T
  hgvsp: ENSP00000471264.1:p.Arg205Ter
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.613C>T
  hgvsp: ENSP00000272198.6:p.Arg205Ter
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2068C>T
  hgvsp: ENSP00000356209.2:p.Arg690Ter
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1252C>T
  hgvsp: ENSP00000400379.2:p.Arg418Ter
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg205Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-203025532-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025532
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025532
    reference: chr 1
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.618G>A
  hgvsp: ENST00000599966.1:c.618G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1372G>A
  hgvsp: ENST00000600426.1:c.1372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.618G>A
  hgvsp: ENST00000295706.4:c.618G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.618G>A
  hgvsp: ENST00000272198.6:c.618G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2073G>A
  hgvsp: ENST00000367240.2:c.2073G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2070G>A
  hgvsp: ENST00000447715.2:c.2070G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-48G>A
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1257G>A
  hgvsp: ENST00000414050.2:c.1257G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27907
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu206Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

1-203025549-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025549
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025549
    reference: chr 1
allele count: 2
allele frequency: 1.657962364254331e-5
allele num: 120630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-31A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2090A>G
  hgvsp: ENSP00000356209.2:p.Lys697Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2087A>G
  hgvsp: ENSP00000402576.1:p.Lys696Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.635A>G
  hgvsp: ENSP00000295706.4:p.Lys212Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1389A>G
  hgvsp: ENSP00000470427.1:p.Lys464Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1274A>G
  hgvsp: ENSP00000400379.2:p.Lys425Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.635A>G
  hgvsp: ENSP00000272198.6:p.Lys212Arg
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.635A>G
  hgvsp: ENSP00000471264.1:p.Lys212Arg
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys212Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-203025550-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025550
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025550
    reference: chr 1
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1390A>G
  hgvsp: ENST00000600426.1:c.1390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.636A>G
  hgvsp: ENST00000272198.6:c.636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.636A>G
  hgvsp: ENST00000295706.4:c.636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2091A>G
  hgvsp: ENST00000367240.2:c.2091A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1275A>G
  hgvsp: ENST00000414050.2:c.1275A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-30A>G
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2088A>G
  hgvsp: ENST00000447715.2:c.2088A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.636A>G
  hgvsp: ENST00000599966.1:c.636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys212Lys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-203025577-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025577
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025577
    reference: chr 1
allele count: 4
allele frequency: 3.336503011193968e-5
allele num: 119886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2115C>T
  hgvsp: ENST00000447715.2:c.2115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.494-3C>T
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1302C>T
  hgvsp: ENST00000414050.2:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.663C>T
  hgvsp: ENST00000599966.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.663C>T
  hgvsp: ENST00000295706.4:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.663C>T
  hgvsp: ENST00000272198.6:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1417C>T
  hgvsp: ENST00000600426.1:c.1417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2118C>T
  hgvsp: ENST00000367240.2:c.2118C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
hgvs: c.494-3C>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-203025582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 203025582
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 203025582
    reference: chr 1
allele count: 9
allele frequency: 7.524328662675985e-5
allele num: 119612
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000272198
  ensembl transcript: ENST00000272198
  gene symbol: PPFIA4
  hgvsc: ENST00000272198.6:c.668C>T
  hgvsp: ENSP00000272198.6:p.Thr223Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000471264
  ensembl transcript: ENST00000599966
  gene symbol: PPFIA4
  hgvsc: ENST00000599966.1:c.668C>T
  hgvsp: ENSP00000471264.1:p.Thr223Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000470427
  ensembl transcript: ENST00000600426
  gene symbol: PPFIA4
  hgvsc: ENST00000600426.1:c.1422C>T
  hgvsp: ENSP00000470427.1:p.Thr475Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000400379
  ensembl transcript: ENST00000414050
  gene symbol: PPFIA4
  hgvsc: ENST00000414050.2:c.1307C>T
  hgvsp: ENSP00000400379.2:p.Thr436Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000472251
  ensembl transcript: ENST00000599514
  gene symbol: PPFIA4
  hgvsc: ENST00000599514.1:c.496C>T
  hgvsp: ENST00000599514.1:c.496C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000402576
  ensembl transcript: ENST00000447715
  gene symbol: PPFIA4
  hgvsc: ENST00000447715.2:c.2120C>T
  hgvsp: ENSP00000402576.1:p.Thr707Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000295706
  ensembl transcript: ENST00000295706
  gene symbol: PPFIA4
  hgvsc: ENST00000295706.4:c.668C>T
  hgvsp: ENSP00000295706.4:p.Thr223Met
  variant of: http://identifiers.org/hgnc/9248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143847
  ensembl protein: ENSP00000356209
  ensembl transcript: ENST00000367240
  gene symbol: PPFIA4
  hgvsc: ENST00000367240.2:c.2123C>T
  hgvsp: ENSP00000356209.2:p.Thr708Met
  variant of: http://identifiers.org/hgnc/9248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16141
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.25e1
  variant carriers: 2
hgvs: p.Thr223Met
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3304
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37536
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2532
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

FS
type: SiteQuality
SIO_000300: 2.529e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.952e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

QD
type: SiteQuality
SIO_000300: 1.249e1

DP
type: SiteQuality
SIO_000300: 2.872969e6

MQ
type: SiteQuality
SIO_000300: 5.912e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37537
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3298
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.12e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

VQSLOD
type: SiteQuality
SIO_000300: -4.831e-1

FS
type: SiteQuality
SIO_000300: 3.748e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 2.872879e6

GenotypeQuality
all individuals: 3190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 182
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1700
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38325
bin: 9.75e1
variant carriers: 2770

GenotypeQuality
all individuals: 7393
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 118
allele frequency: 1.020231713643438e-2
allele num: 11566
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 64
allele frequency: 9.688162276718135e-3
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 67
allele frequency: 6.828373420301671e-3
allele num: 9812
num of homozygotes: 1

East Asian
type: Population
allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2029
allele frequency: 3.048011056363418e-2
allele num: 66568
num of homozygotes: 32

Other
type: Population
allele count: 10
allele frequency: 1.11358574610245e-2
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 525
allele frequency: 3.179505813953488e-2
allele num: 16512
num of homozygotes: 5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

VQSLOD
type: SiteQuality
SIO_000300: 6.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.972222e6

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3333
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2582
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 8624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 1.385e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.772e0

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

DP
type: SiteQuality
SIO_000300: 2.871887e6

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37363
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 11
allele frequency: 1.121991024071807e-3
allele num: 9804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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: 2
allele frequency: 3.005530175522962e-5
allele num: 66544
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

DP
type: SiteQuality
SIO_000300: 2.870894e6

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 2.498e0

QD
type: SiteQuality
SIO_000300: 1.2e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37357
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005168890491646e-5
allele num: 66552
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

DP
type: SiteQuality
SIO_000300: 2.870491e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.294e1

FS
type: SiteQuality
SIO_000300: 4.807e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37369
bin: 9.75e1
variant carriers: 69

GenotypeQuality
all individuals: 7642
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2514
bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.855253666746814e-4
allele num: 66544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 51
allele frequency: 5.917846368066837e-3
allele num: 8618
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 2.871502e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508566275924256e-5
allele num: 66540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.163e1

BaseQRankSum
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SIO_000300: -1.932e0

DP
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SIO_000300: 2.870963e6

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

FS
type: SiteQuality
SIO_000300: 1.264e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

South Asian
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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: 9796
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.454e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.465e0

DP
type: SiteQuality
SIO_000300: 2.871022e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

East Asian
type: Population
allele count: 7
allele frequency: 8.120649651972158e-4
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.87088e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

FS
type: SiteQuality
SIO_000300: 1.102e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 5
allele frequency: 5.80046403712297e-4
allele num: 8620
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.748e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.351e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

DP
type: SiteQuality
SIO_000300: 2.87073e6

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.304e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.358e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 2.870576e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 8.81e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 22
allele frequency: 2.55279647249942e-3
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

Latino
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allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

Other
type: Population
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allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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South Asian
type: Population
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allele frequency: 6.056935190793458e-5
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.746e0

MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.85e-1

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7538
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2584
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37419
bin: 9.75e1
variant carriers: 99

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

African
type: Population
allele count: 98
allele frequency: 1.001430615164521e-2
allele num: 9786
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

DP
type: SiteQuality
SIO_000300: 2.87127e6

FS
type: SiteQuality
SIO_000300: 1.097e0

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

GenotypeQuality
all individuals: 2518
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.955710675171501e-4
allele num: 66472
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 1.733e0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.333e1

DP
type: SiteQuality
SIO_000300: 2.869991e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7503
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
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variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 3254
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variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.017209218364522e-5
allele num: 66476
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.022076860179886e-4
allele num: 9784
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 1.088e0

QD
type: SiteQuality
SIO_000300: 1.449e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 2.869842e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

GenotypeQuality
all individuals: 1982
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
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variant carriers: 0

GenotypeQuality
all individuals: 37397
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 153
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GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 92
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GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1767
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.723e0

QD
type: SiteQuality
SIO_000300: 4.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.038e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 2.869349e6

VQSLOD
type: SiteQuality
SIO_000300: -2.742e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.48e-1

GenotypeQuality
all individuals: 153
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 2586
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37399
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2551
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variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
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GenotypeQuality
all individuals: 3248
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.631e0

MQRankSum
type: SiteQuality
SIO_000300: -7.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 4.045e0

QD
type: SiteQuality
SIO_000300: 1.607e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

DP
type: SiteQuality
SIO_000300: 2.869407e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37399
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 1988
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variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 9.25e1
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GenotypeQuality
all individuals: 2590
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7472
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
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: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 7.832e0

QD
type: SiteQuality
SIO_000300: 1.291e1

DP
type: SiteQuality
SIO_000300: 2.869099e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.572e0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 10

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 12

GenotypeQuality
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bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 8

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 294
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variant carriers: 3

GenotypeQuality
all individuals: 1853
bin: 9.25e1
variant carriers: 24

GenotypeQuality
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bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 42455
bin: 9.75e1
variant carriers: 16639

GenotypeQuality
all individuals: 1880
bin: 7.75e1
variant carriers: 19

GenotypeQuality
all individuals: 1285
bin: 8.75e1
variant carriers: 14

European (Non-Finnish)
type: Population
allele count: 10865
allele frequency: 1.635753214296468e-1
allele num: 66422
num of homozygotes: 906

Latino
type: Population
allele count: 784
allele frequency: 6.783180481052085e-2
allele num: 11558
num of homozygotes: 35

South Asian
type: Population
allele count: 1806
allele frequency: 1.094545454545455e-1
allele num: 16500
num of homozygotes: 111

European (Finnish)
type: Population
allele count: 1333
allele frequency: 2.024605103280681e-1
allele num: 6584
num of homozygotes: 126

Other
type: Population
allele count: 158
allele frequency: 1.763392857142857e-1
allele num: 896
num of homozygotes: 19

African
type: Population
allele count: 2300
allele frequency: 2.348856209150327e-1
allele num: 9792
num of homozygotes: 278

East Asian
type: Population
allele count: 1067
allele frequency: 1.242720708129513e-1
allele num: 8586
num of homozygotes: 61

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.188e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 3.259233e6

QD
type: SiteQuality
SIO_000300: 1.589e1

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 3230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
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variant carriers: 0

GenotypeQuality
all individuals: 98
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GenotypeQuality
all individuals: 152
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GenotypeQuality
all individuals: 2360
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GenotypeQuality
all individuals: 430
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GenotypeQuality
all individuals: 60
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GenotypeQuality
all individuals: 1598
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GenotypeQuality
all individuals: 2409
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 37762
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506341698550899e-5
allele num: 66386
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
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: 898
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.83e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 1.861e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

DP
type: SiteQuality
SIO_000300: 2.949489e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37748
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 1737
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7741
bin: 6.25e1
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GenotypeQuality
all individuals: 2330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01987074953192e-5
allele num: 66228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.238e0

VQSLOD
type: SiteQuality
SIO_000300: -3.519e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 2.939504e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.505e0

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 3.402e1

GenotypeQuality
all individuals: 1586
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1712
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2318
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 4
allele frequency: 4.140786749482402e-4
allele num: 9660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66046
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.917e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.982e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

DP
type: SiteQuality
SIO_000300: 2.926646e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

QD
type: SiteQuality
SIO_000300: 1.269e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 495
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37734
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.822821728034998e-4
allele num: 16458
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 2.912399e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.208e0

FS
type: SiteQuality
SIO_000300: 8.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

GenotypeQuality
all individuals: 216
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37781
bin: 9.75e1
variant carriers: 191

European (Non-Finnish)
type: Population
allele count: 165
allele frequency: 2.515090543259557e-3
allele num: 65604
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.222972972972973e-4
allele num: 9472
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 14
allele frequency: 2.139364303178484e-3
allele num: 6544
num of homozygotes: 1

Latino
type: Population
allele count: 7
allele frequency: 6.059556786703601e-4
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.925e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.138e1

DP
type: SiteQuality
SIO_000300: 2.900591e6

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.476e0

GenotypeQuality
all individuals: 2234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37737
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1573
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2389
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.329916123019571e-4
allele num: 8584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.051385328939338e-5
allele num: 65544
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

DP
type: SiteQuality
SIO_000300: 2.897619e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

FS
type: SiteQuality
SIO_000300: 2.131e0

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.308e1

GenotypeQuality
all individuals: 2860
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4091
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10558
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.830801836806782e-5
allele num: 11324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65642
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.619e1

FS
type: SiteQuality
SIO_000300: 3.174e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.729463e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2560
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10572
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2727
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3134
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15843
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.512058066026691e-4
allele num: 8542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65852
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.914e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 1.756005e6

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

GenotypeQuality
all individuals: 4529
bin: 6.75e1
variant carriers: 173

GenotypeQuality
all individuals: 790
bin: 4.75e1
variant carriers: 70

GenotypeQuality
all individuals: 26405
bin: 9.75e1
variant carriers: 20519

GenotypeQuality
all individuals: 208
bin: 2.5e0
variant carriers: 19

GenotypeQuality
all individuals: 594
bin: 2.75e1
variant carriers: 44

GenotypeQuality
all individuals: 2714
bin: 7.75e1
variant carriers: 193

GenotypeQuality
all individuals: 2176
bin: 8.25e1
variant carriers: 221

GenotypeQuality
all individuals: 2118
bin: 7.25e1
variant carriers: 116

GenotypeQuality
all individuals: 1036
bin: 8.75e1
variant carriers: 123

GenotypeQuality
all individuals: 764
bin: 2.25e1
variant carriers: 33

GenotypeQuality
all individuals: 722
bin: 4.25e1
variant carriers: 60

GenotypeQuality
all individuals: 472
bin: 5.25e1
variant carriers: 115

European (Non-Finnish)
type: Population
allele count: 14159
allele frequency: 2.153460076045627e-1
allele num: 65750
num of homozygotes: 1574

Latino
type: Population
allele count: 2113
allele frequency: 1.864631133074479e-1
allele num: 11332
num of homozygotes: 185

East Asian
type: Population
allele count: 782
allele frequency: 9.19783580334039e-2
allele num: 8502
num of homozygotes: 44

African
type: Population
allele count: 1675
allele frequency: 1.735751295336788e-1
allele num: 9650
num of homozygotes: 146

Other
type: Population
allele count: 208
allele frequency: 2.374429223744292e-1
allele num: 876
num of homozygotes: 29

European (Finnish)
type: Population
allele count: 1694
allele frequency: 2.59656652360515e-1
allele num: 6524
num of homozygotes: 205

South Asian
type: Population
allele count: 4306
allele frequency: 2.657040602246082e-1
allele num: 16206
num of homozygotes: 611

QD
type: SiteQuality
SIO_000300: 1.794e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.474e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.929729e6

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11066
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20040
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.032631144155308e-4
allele num: 9684
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.893e1

QD
type: SiteQuality
SIO_000300: 2.981e1

FS
type: SiteQuality
SIO_000300: 6.576e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.943e0

DP
type: SiteQuality
SIO_000300: 1.914685e6

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.175e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.97e-1

GenotypeQuality
all individuals: 450
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11078
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.093e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

VQSLOD
type: SiteQuality
SIO_000300: -4.98e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.934608e6

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

DP
type: SiteQuality
SIO_000300: 1.950806e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.102e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 1.967e0

QD
type: SiteQuality
SIO_000300: 1.095e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.399e-1

FS
type: SiteQuality
SIO_000300: 2.931e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.404e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.952879e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 1.973e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
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: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.935e0

DP
type: SiteQuality
SIO_000300: 1.960342e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.213e0

FS
type: SiteQuality
SIO_000300: 3.189e0

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 5.794e1

QD
type: SiteQuality
SIO_000300: 1.222e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.214e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.466e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

FS
type: SiteQuality
SIO_000300: 5.381e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.961367e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.987e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
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: 8.96e-1

DP
type: SiteQuality
SIO_000300: 1.962803e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.385e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.173e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11072
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 3
allele frequency: 2.59920291110726e-4
allele num: 11542
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.452e1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.847e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.196e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 1.963125e6

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

GenotypeQuality
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variant carriers: 0

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

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: 66654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.102e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.24e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.96279e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.669e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 130
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variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 7.13e0

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

DP
type: SiteQuality
SIO_000300: 1.95743e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.419999999999999e-1

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7853
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4636
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3661
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3536
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.041649652919559e-4
allele num: 9796
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.950715e6

QD
type: SiteQuality
SIO_000300: 9.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 2.102e0

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.613e0

MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 318
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4545
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7651
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11810
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.15e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

DP
type: SiteQuality
SIO_000300: 1.966363e6

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 783
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11810
bin: 9.75e1
variant carriers: 972

GenotypeQuality
all individuals: 21314
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3573
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4545
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7651
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 164
allele frequency: 1.674494588523586e-2
allele num: 9794
num of homozygotes: 2

Latino
type: Population
allele count: 47
allele frequency: 4.079152924839438e-3
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 55
allele frequency: 3.344278243949897e-3
allele num: 16446
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 637
allele frequency: 9.563415805909201e-3
allele num: 66608
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 74
allele frequency: 1.119854721549637e-2
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 7.829977628635347e-3
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

DP
type: SiteQuality
SIO_000300: 1.966363e6

QD
type: SiteQuality
SIO_000300: 1.323e1

VQSLOD
type: SiteQuality
SIO_000300: 6.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

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

GenotypeQuality
all individuals: 3611
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7758
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
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variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21303
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.73550850399167e-4
allele num: 11524
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 3.268641470888662e-3
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

DP
type: SiteQuality
SIO_000300: 1.955465e6

GenotypeQuality
all individuals: 7753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11076
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.169e1

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

FS
type: SiteQuality
SIO_000300: 6.001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.667e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.953371e6

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3567
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18821
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.788e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.722e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.848e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 1.833e0

DP
type: SiteQuality
SIO_000300: 1.942433e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14669
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11069
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.239e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.935933e6

QD
type: SiteQuality
SIO_000300: 1.326e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

GenotypeQuality
all individuals: 871
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4275
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 622
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34394
bin: 6.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65878
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14556
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

DP
type: SiteQuality
SIO_000300: 1.665385e6

QD
type: SiteQuality
SIO_000300: 1.47e1

FS
type: SiteQuality
SIO_000300: 3.603e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.946e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 563
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7613
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.37646249139711e-4
allele num: 14530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

QD
type: SiteQuality
SIO_000300: 1.528e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.666341e6

GenotypeQuality
all individuals: 157
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.84931506849315e-5
allele num: 14600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

QD
type: SiteQuality
SIO_000300: 3.78e0

FS
type: SiteQuality
SIO_000300: 7.123e0

VQSLOD
type: SiteQuality
SIO_000300: -2.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.667069e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

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

GenotypeQuality
all individuals: 1588
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 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: 868
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.364877161055505e-4
allele num: 65940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 1.670847e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2444
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 578
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variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14720
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.55000455000455e-5
allele num: 65934
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 2.024e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.315e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 3.035e0

DP
type: SiteQuality
SIO_000300: 1.672046e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

GenotypeQuality
all individuals: 652
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4231
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2258
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variant carriers: 0

GenotypeQuality
all individuals: 7671
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.722237160527024e-5
allele num: 14876
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

QD
type: SiteQuality
SIO_000300: 1.534e1

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

DP
type: SiteQuality
SIO_000300: 1.675911e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
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variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 36770
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variant carriers: 0

GenotypeQuality
all individuals: 2268
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variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4228
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66022
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025430680885972e-4
allele num: 9752
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -5.131e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.29e-1

DP
type: SiteQuality
SIO_000300: 1.680885e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.07e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

QD
type: SiteQuality
SIO_000300: 8.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.469e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

GenotypeQuality
all individuals: 37124
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
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variant carriers: 0

GenotypeQuality
all individuals: 7704
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variant carriers: 0

GenotypeQuality
all individuals: 710
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 192
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GenotypeQuality
all individuals: 733
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 580
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GenotypeQuality
all individuals: 499
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variant carriers: 0

GenotypeQuality
all individuals: 4230
bin: 9.75e1
variant carriers: 12

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.086778736937755e-5
allele num: 66030
num of homozygotes: 1

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

South Asian
type: Population
allele count: 4
allele frequency: 2.658160552897395e-4
allele num: 15048
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.685279e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.022e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 1331
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
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GenotypeQuality
all individuals: 375
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7793
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.872607420398537e-4
allele num: 66142
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15348
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.6924e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

FS
type: SiteQuality
SIO_000300: 1.982e0

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

QD
type: SiteQuality
SIO_000300: 1.079e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4217
bin: 9.75e1
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GenotypeQuality
all individuals: 128
bin: 4.25e1
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GenotypeQuality
all individuals: 2279
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GenotypeQuality
all individuals: 38228
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GenotypeQuality
all individuals: 2429
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GenotypeQuality
all individuals: 381
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GenotypeQuality
all individuals: 76
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7826
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.443298969072165e-5
allele num: 15520
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.804e1

QD
type: SiteQuality
SIO_000300: 1.198e1

MQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.696279e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.376e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
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variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
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GenotypeQuality
all individuals: 299
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GenotypeQuality
all individuals: 4218
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 578
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GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 846
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GenotypeQuality
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GenotypeQuality
all individuals: 214
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GenotypeQuality
all individuals: 1332
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variant carriers: 0

GenotypeQuality
all individuals: 38406
bin: 6.25e1
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GenotypeQuality
all individuals: 2442
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66260
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.376737661012626e-5
allele num: 15682
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.70273e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 2.25e1

FS
type: SiteQuality
SIO_000300: 6.614e0

VQSLOD
type: SiteQuality
SIO_000300: -1.692e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

GenotypeQuality
all individuals: 2441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50793172085168e-5
allele num: 66316
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.706273e6

VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

FS
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.178e0

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.222e1

GenotypeQuality
all individuals: 14
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.293266205160478e-5
allele num: 15890
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.708719e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.376e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 734
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.659e0

MQRankSum
type: SiteQuality
SIO_000300: -1.822e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.946e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.21e1

DP
type: SiteQuality
SIO_000300: 1.718079e6

FS
type: SiteQuality
SIO_000300: 4.925e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.042483660130719e-4
allele num: 9792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.720984e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 580
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.168e0

DP
type: SiteQuality
SIO_000300: 1.723417e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 2.435e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.83e-1

QD
type: SiteQuality
SIO_000300: 3.97e0

VQSLOD
type: SiteQuality
SIO_000300: -2.921e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 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: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.03e1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

DP
type: SiteQuality
SIO_000300: 1.724085e6

MQRankSum
type: SiteQuality
SIO_000300: -8.72e-1

FS
type: SiteQuality
SIO_000300: 8.090000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.72513e6

QD
type: SiteQuality
SIO_000300: 1.238e1

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.044153720359771e-4
allele num: 9784
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 739
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 5.3e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 1.725826e6

VQSLOD
type: SiteQuality
SIO_000300: -3.473e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39361
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7687
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 9.75e1
variant carriers: 4

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.158004158004158e-4
allele num: 9620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.212e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 1.708072e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.843e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1