1-167367398-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167367398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167367398
    reference: chr 1
allele count: 2
allele frequency: 1.670815859384137e-5
allele num: 119702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.924+28A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1196+28A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1765+28A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1080+28A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1236+28A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1200+28A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1269+28A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1175+28A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1200+28A>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-167367401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167367401
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167367401
    reference: chr 1
allele count: 2
allele frequency: 1.672688344707614e-5
allele num: 119568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1200+31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1765+31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1196+31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1080+31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1175+31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.924+31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1269+31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1200+31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1236+31G>A
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

1-167367401-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167367401
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167367401
    reference: chr 1
allele count: 5
allele frequency: 4.181720861769035e-5
allele num: 119568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1200+31G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.924+31G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1196+31G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1236+31G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1269+31G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1765+31G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1175+31G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1200+31G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1080+31G>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10597
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ

1-167367403-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167367403
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167367403
    reference: chr 1
allele count: 1
allele frequency: 8.362882183715796e-6
allele num: 119576
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1269+33A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1080+33A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1236+33A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1765+33A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1200+33A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1196+33A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1175+33A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.924+33A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1200+33A>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-167367415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167367415
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167367415
    reference: chr 1
allele count: 1
allele frequency: 8.416374899003501e-6
allele num: 118816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1080+45G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1175+45G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1765+45G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1269+45G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1200+45G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.924+45G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1196+45G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1200+45G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1236+45G>A
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15450
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

1-167367420-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167367420
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167367420
    reference: chr 1
allele count: 1
allele frequency: 8.439388313135065e-6
allele num: 118492
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1080+50T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1269+50T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1175+50T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1765+50T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.924+50T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1196+50T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1236+50T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1200+50T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1200+50T>C
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-167367421-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167367421
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167367421
    reference: chr 1
allele count: 1
allele frequency: 8.436255652291287e-6
allele num: 118536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.924+51A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1236+51A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1080+51A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1175+51A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1200+51A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1765+51A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1200+51A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1196+51A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1269+51A>G
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-167368380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368380
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368380
    reference: chr 1
allele count: 2
allele frequency: 1.701722142808522e-5
allele num: 117528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1176-43T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1201-43T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1766-43T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1197-43T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1270-43T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1237-43T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1201-43T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1081-43T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.925-43T>C
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7083
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

1-167368386-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368386
    reference: chr 1
allele count: 2
allele frequency: 1.700159815022612e-5
allele num: 117636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1081-37A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1766-37A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1201-37A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1270-37A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1197-37A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1201-37A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1176-37A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1237-37A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.925-37A>G
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-167368389-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368389
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368389
    reference: chr 1
allele count: 1
allele frequency: 8.491126772522713e-6
allele num: 117770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1766-34A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1201-34A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1270-34A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.925-34A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1081-34A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1201-34A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1197-34A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1176-34A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1237-34A>G
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14639
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4738
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-167368392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368392
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368392
    reference: chr 1
allele count: 1
allele frequency: 8.483347189467077e-6
allele num: 117878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1197-31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.925-31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1176-31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1201-31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1270-31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1201-31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1081-31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1766-31G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1237-31G>A
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14640
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-167368399-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368399
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368399
    reference: chr 1
allele count: 1
allele frequency: 8.448086508405846e-6
allele num: 118370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1081-24G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.925-24G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1201-24G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1201-24G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1197-24G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1176-24G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1270-24G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1766-24G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1237-24G>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-167368401-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368401
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368401
    reference: chr 1
allele count: 1
allele frequency: 8.436540343535924e-6
allele num: 118532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1237-22A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1081-22A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1201-22A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1201-22A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1197-22A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.925-22A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1270-22A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1176-22A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1766-22A>G
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-167368409-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368409
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368409
    reference: chr 1
allele count: 1
allele frequency: 8.387854386847844e-6
allele num: 119220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1237-14T>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1201-14T>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1176-14T>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.925-14T>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1201-14T>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1081-14T>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1766-14T>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1270-14T>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1197-14T>A
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-167368415-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368415
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368415
    reference: chr 1
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1201-8C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1766-8C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1237-8C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1176-8C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1201-8C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1197-8C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1270-8C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.925-8C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1081-8C>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1270-8C>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-167368431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368431
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368431
    reference: chr 1
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1209G>A
  hgvsp: ENST00000420254.3:c.1209G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.933G>A
  hgvsp: ENST00000443275.1:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1184G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1089G>A
  hgvsp: ENST00000429375.2:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1209G>A
  hgvsp: ENST00000541643.3:c.1209G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1278G>A
  hgvsp: ENST00000367866.2:c.1278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1774G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1205G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1245G>A
  hgvsp: ENST00000367862.5:c.1245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys426Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-167368436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368436
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368436
    reference: chr 1
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1214C>T
  hgvsp: ENSP00000414660.3:p.Thr405Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1189C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1779C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1094C>T
  hgvsp: ENSP00000401217.2:p.Thr365Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1283C>T
  hgvsp: ENSP00000356840.2:p.Thr428Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1250C>T
  hgvsp: ENSP00000356836.5:p.Thr417Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.938C>T
  hgvsp: ENSP00000415993.1:p.Thr313Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1214C>T
  hgvsp: ENSP00000441285.2:p.Thr405Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1210C>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr428Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-167368439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368439
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368439
    reference: chr 1
allele count: 2
allele frequency: 1.657907389293234e-5
allele num: 120634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1097C>T
  hgvsp: ENSP00000401217.2:p.Ser366Leu
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1782C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1217C>T
  hgvsp: ENSP00000441285.2:p.Ser406Leu
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1286C>T
  hgvsp: ENSP00000356840.2:p.Ser429Leu
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1217C>T
  hgvsp: ENSP00000414660.3:p.Ser406Leu
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1253C>T
  hgvsp: ENSP00000356836.5:p.Ser418Leu
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.941C>T
  hgvsp: ENSP00000415993.1:p.Ser314Leu
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1213C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1192C>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Ser429Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-167368441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368441
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368441
    reference: chr 1
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1099G>A
  hgvsp: ENSP00000401217.2:p.Glu367Lys
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1288G>A
  hgvsp: ENSP00000356840.2:p.Glu430Lys
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.943G>A
  hgvsp: ENSP00000415993.1:p.Glu315Lys
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1194G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1215G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1219G>A
  hgvsp: ENSP00000414660.3:p.Glu407Lys
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1219G>A
  hgvsp: ENSP00000441285.2:p.Glu407Lys
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1784G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1255G>A
  hgvsp: ENSP00000356836.5:p.Glu419Lys
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4775
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu430Lys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-167368462-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368462
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368462
    reference: chr 1
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1240G>T
  hgvsp: ENSP00000414660.3:p.Asp414Tyr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1240G>T
  hgvsp: ENSP00000441285.2:p.Asp414Tyr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1215G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1120G>T
  hgvsp: ENSP00000401217.2:p.Asp374Tyr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1309G>T
  hgvsp: ENSP00000356840.2:p.Asp437Tyr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1276G>T
  hgvsp: ENSP00000356836.5:p.Asp426Tyr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.964G>T
  hgvsp: ENSP00000415993.1:p.Asp322Tyr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1805G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1236G>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp437Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

1-167368521-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368521
    reference: chr 1
allele count: 3
allele frequency: 2.477618843117175e-5
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1368A>G
  hgvsp: ENST00000367866.2:c.1368A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1023A>G
  hgvsp: ENST00000443275.1:c.1023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1179A>G
  hgvsp: ENST00000429375.2:c.1179A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1274A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1299A>G
  hgvsp: ENST00000541643.3:c.1299A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1864A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1295A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1299A>G
  hgvsp: ENST00000420254.3:c.1299A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1335A>G
  hgvsp: ENST00000367862.5:c.1335A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13891
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys456Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-167368536-CCCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368536
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368533
    reference: chr 1
allele count: 4
allele frequency: 3.303000776205183e-5
allele num: 121102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1354_1356delCCA
  hgvsp: ENSP00000356836.5:p.Pro452del
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1042_1044delCCA
  hgvsp: ENSP00000415993.1:p.Pro348del
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1318_1320delCCA
  hgvsp: ENSP00000414660.3:p.Pro440del
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1387_1389delCCA
  hgvsp: ENSP00000356840.2:p.Pro463del
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1314_*1316delCCA
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1198_1200delCCA
  hgvsp: ENSP00000401217.2:p.Pro400del
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1318_1320delCCA
  hgvsp: ENSP00000441285.2:p.Pro440del
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1883_1885delCCA
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1293_1295delCCA
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21237
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro463del
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: CCCA
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-167368542-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368542
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368542
    reference: chr 1
allele count: 2
allele frequency: 1.651664051531918e-5
allele num: 121090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1044A>C
  hgvsp: ENST00000443275.1:c.1044A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1885A>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1389A>C
  hgvsp: ENST00000367866.2:c.1389A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1316A>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1320A>C
  hgvsp: ENST00000541643.3:c.1320A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1320A>C
  hgvsp: ENST00000420254.3:c.1320A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1356A>C
  hgvsp: ENST00000367862.5:c.1356A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1295A>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1200A>C
  hgvsp: ENST00000429375.2:c.1200A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro463Pro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-167368543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368543
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368543
    reference: chr 1
allele count: 72
allele frequency: 5.945794176424926e-4
allele num: 121094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1296A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1390A>G
  hgvsp: ENSP00000356840.2:p.Ser464Gly
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1886A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1321A>G
  hgvsp: ENSP00000414660.3:p.Ser441Gly
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1317A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1201A>G
  hgvsp: ENSP00000401217.2:p.Ser401Gly
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1357A>G
  hgvsp: ENSP00000356836.5:p.Ser453Gly
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1045A>G
  hgvsp: ENSP00000415993.1:p.Ser349Gly
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1321A>G
  hgvsp: ENSP00000441285.2:p.Ser441Gly
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser464Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

1-167368547-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368547
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368547
    reference: chr 1
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1321G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1325G>T
  hgvsp: ENSP00000414660.3:p.Ser442Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1890G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1325G>T
  hgvsp: ENSP00000441285.2:p.Ser442Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1205G>T
  hgvsp: ENSP00000401217.2:p.Ser402Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1394G>T
  hgvsp: ENSP00000356840.2:p.Ser465Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1300G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1049G>T
  hgvsp: ENSP00000415993.1:p.Ser350Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1361G>T
  hgvsp: ENSP00000356836.5:p.Ser454Ile
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser465Ile
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-167368550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368550
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368550
    reference: chr 1
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1364G>A
  hgvsp: ENSP00000356836.5:p.Gly455Asp
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1052G>A
  hgvsp: ENSP00000415993.1:p.Gly351Asp
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1397G>A
  hgvsp: ENSP00000356840.2:p.Gly466Asp
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1303G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1328G>A
  hgvsp: ENSP00000414660.3:p.Gly443Asp
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1208G>A
  hgvsp: ENSP00000401217.2:p.Gly403Asp
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1893G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1324G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1328G>A
  hgvsp: ENSP00000441285.2:p.Gly443Asp
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly466Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

1-167368558-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368558
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368558
    reference: chr 1
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1216A>G
  hgvsp: ENSP00000401217.2:p.Ser406Gly
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1372A>G
  hgvsp: ENSP00000356836.5:p.Ser458Gly
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1336A>G
  hgvsp: ENSP00000414660.3:p.Ser446Gly
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1405A>G
  hgvsp: ENSP00000356840.2:p.Ser469Gly
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1311A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1336A>G
  hgvsp: ENSP00000441285.2:p.Ser446Gly
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1332A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1060A>G
  hgvsp: ENSP00000415993.1:p.Ser354Gly
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1901A>G
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser469Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-167368559-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368559
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368559
    reference: chr 1
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1337G>A
  hgvsp: ENSP00000441285.2:p.Ser446Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1337G>A
  hgvsp: ENSP00000414660.3:p.Ser446Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1902G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1312G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1373G>A
  hgvsp: ENSP00000356836.5:p.Ser458Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1333G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1061G>A
  hgvsp: ENSP00000415993.1:p.Ser354Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1217G>A
  hgvsp: ENSP00000401217.2:p.Ser406Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1406G>A
  hgvsp: ENSP00000356840.2:p.Ser469Asn
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser469Asn
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-167368567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368567
    reference: chr 1
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1910C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1320C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1345C>T
  hgvsp: ENSP00000414660.3:p.Pro449Ser
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1341C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1381C>T
  hgvsp: ENSP00000356836.5:p.Pro461Ser
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1414C>T
  hgvsp: ENSP00000356840.2:p.Pro472Ser
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1069C>T
  hgvsp: ENSP00000415993.1:p.Pro357Ser
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1345C>T
  hgvsp: ENSP00000441285.2:p.Pro449Ser
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1225C>T
  hgvsp: ENSP00000401217.2:p.Pro409Ser
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro472Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-167368570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368570
    reference: chr 1
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1072A>G
  hgvsp: ENSP00000415993.1:p.Ile358Val
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1348A>G
  hgvsp: ENSP00000414660.3:p.Ile450Val
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1228A>G
  hgvsp: ENSP00000401217.2:p.Ile410Val
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1384A>G
  hgvsp: ENSP00000356836.5:p.Ile462Val
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1348A>G
  hgvsp: ENSP00000441285.2:p.Ile450Val
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1417A>G
  hgvsp: ENSP00000356840.2:p.Ile473Val
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1913A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1323A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1344A>G
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile473Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-167368572-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368572
    reference: chr 1
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1350T>G
  hgvsp: ENSP00000441285.2:p.Ile450Met
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1230T>G
  hgvsp: ENSP00000401217.2:p.Ile410Met
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1346T>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1325T>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1074T>G
  hgvsp: ENSP00000415993.1:p.Ile358Met
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1386T>G
  hgvsp: ENSP00000356836.5:p.Ile462Met
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1419T>G
  hgvsp: ENSP00000356840.2:p.Ile473Met
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1350T>G
  hgvsp: ENSP00000414660.3:p.Ile450Met
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1915T>G
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4761
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile473Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-167368587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368587
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368587
    reference: chr 1
allele count: 2
allele frequency: 1.657522666622466e-5
allele num: 120662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1245C>T
  hgvsp: ENST00000429375.2:c.1245C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1365C>T
  hgvsp: ENST00000420254.3:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1365C>T
  hgvsp: ENST00000541643.3:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1930C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1401C>T
  hgvsp: ENST00000367862.5:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1089C>T
  hgvsp: ENST00000443275.1:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1361C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1434C>T
  hgvsp: ENST00000367866.2:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1340C>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro478Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-167368592-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368592
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368592
    reference: chr 1
allele count: 1
allele frequency: 8.304544246611745e-6
allele num: 120416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1935C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1094C>T
  hgvsp: ENSP00000415993.1:p.Pro365Leu
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1439C>T
  hgvsp: ENSP00000356840.2:p.Pro480Leu
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1370C>T
  hgvsp: ENSP00000441285.2:p.Pro457Leu
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1406C>T
  hgvsp: ENSP00000356836.5:p.Pro469Leu
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1250C>T
  hgvsp: ENSP00000401217.2:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1370C>T
  hgvsp: ENSP00000414660.3:p.Pro457Leu
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1345C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1366C>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14582
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro480Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-167368610-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368610
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368610
    reference: chr 1
allele count: 3
allele frequency: 2.508864655114739e-5
allele num: 119576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1380+8T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1104+8T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1449+8T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1260+8T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1380+8T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1355+8T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1416+8T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1945+8T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1376+8T>C
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13141
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1449+8T>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-167368616-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368616
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368617
    reference: chr 1
allele count: 1
allele frequency: 8.389965601141035e-6
allele num: 119190
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1945+15dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1104+15dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1380+15dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1380+15dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1449+15dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1355+15dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1260+15dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1416+15dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1376+15dupT
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18232
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

1-167368618-AGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368618
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368616
    reference: chr 1
allele count: 1
allele frequency: 8.406893652795292e-6
allele num: 118950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1260+18_1260+19delGG
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1449+18_1449+19delGG
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1355+18_1355+19delGG
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1416+18_1416+19delGG
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1380+18_1380+19delGG
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1104+18_1104+19delGG
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1380+18_1380+19delGG
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1945+18_1945+19delGG
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1376+18_*1376+19delGG
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: AGG
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-167368621-G-GCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368621
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368624
    reference: chr 1
allele count: 1
allele frequency: 8.412693071305987e-6
allele num: 118868
alternate allele: GCCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1380+19_1380+20insCCT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1945+19_1945+20insCCT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1416+19_1416+20insCCT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1449+19_1449+20insCCT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1104+19_1104+20insCCT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1355+19_1355+20insCCT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1376+19_*1376+20insCCT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1260+19_1260+20insCCT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1380+19_1380+20insCCT
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-167368625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368625
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368625
    reference: chr 1
allele count: 1
allele frequency: 8.435686327439601e-6
allele num: 118544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1416+23G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1380+23G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1376+23G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1380+23G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1355+23G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1104+23G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1449+23G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1260+23G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1945+23G>A
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

1-167368630-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368630
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368631
    reference: chr 1
allele count: 1
allele frequency: 8.461811843151855e-6
allele num: 118178
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1945+29dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1104+29dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1355+29dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1376+29dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1416+29dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1380+29dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1260+29dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1380+29dupT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1449+29dupT
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11941
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-167368637-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368637
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368636
    reference: chr 1
allele count: 1
allele frequency: 8.507018290089324e-6
allele num: 117550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1376+36delC
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1416+36delC
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1380+36delC
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1104+36delC
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1449+36delC
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1945+36delC
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1380+36delC
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1355+36delC
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1260+36delC
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: GC
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-167368649-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368649
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368650
    reference: chr 1
allele count: 1
allele frequency: 8.606740799394086e-6
allele num: 116188
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1380+47_1380+48insT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1945+47_1945+48insT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1380+47_1380+48insT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1260+47_1260+48insT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1416+47_1416+48insT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1449+47_1449+48insT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1376+47_*1376+48insT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1355+47_1355+48insT
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1104+47_1104+48insT
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-167368650-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368650
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368650
    reference: chr 1
allele count: 6
allele frequency: 5.166267715993042e-5
allele num: 116138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1380+48A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1376+48A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1945+48A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1449+48A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1416+48A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1380+48A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1104+48A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1355+48A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1260+48A>G
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

1-167368650-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167368650
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167368650
    reference: chr 1
allele count: 1
allele frequency: 8.610446193321739e-6
allele num: 116138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1945+48A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1104+48A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1355+48A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1449+48A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1380+48A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1380+48A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1376+48A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1260+48A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1416+48A>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

1-167370639-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370639
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370639
    reference: chr 1
allele count: 2
allele frequency: 2.105041574571098e-5
allele num: 95010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1381-49A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1377-49A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1261-49A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1946-49A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1105-49A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1381-49A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1450-49A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1417-49A>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1356-49A>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12733
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20539
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4608
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-167370654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370654
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370654
    reference: chr 1
allele count: 1
allele frequency: 1.024548174255153e-5
allele num: 97604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1417-34G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1356-34G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1381-34G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1381-34G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1377-34G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1261-34G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1450-34G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1946-34G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1105-34G>A
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22385
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6740
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4761
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-167370657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370657
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370657
    reference: chr 1
allele count: 1
allele frequency: 1.00773943889068e-5
allele num: 99232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1381-31C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1261-31C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1946-31C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1381-31C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1417-31C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1450-31C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1105-31C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1377-31C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1356-31C>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26365
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5555
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-167370663-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370663
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370663
    reference: chr 1
allele count: 1
allele frequency: 9.68729414499942e-6
allele num: 103228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1377-25C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1946-25C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1105-25C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1381-25C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1417-25C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1450-25C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1356-25C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1381-25C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1261-25C>T
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
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: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

1-167370669-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370669
    reference: chr 1
allele count: 1
allele frequency: 9.310813578890524e-6
allele num: 107402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1450-19T>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1261-19T>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1381-19T>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1946-19T>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1105-19T>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1417-19T>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1356-19T>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1381-19T>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1377-19T>G
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6885
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

1-167370688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370688
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370688
    reference: chr 1
allele count: 1
allele frequency: 8.625150940141453e-6
allele num: 115940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1356G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1450G>A
  hgvsp: ENSP00000356840.2:p.Val484Met
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1417G>A
  hgvsp: ENSP00000356836.5:p.Val473Met
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1377G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1105G>A
  hgvsp: ENSP00000415993.1:p.Val369Met
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1381G>A
  hgvsp: ENSP00000414660.3:p.Val461Met
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1381G>A
  hgvsp: ENSP00000441285.2:p.Val461Met
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1946G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1261G>A
  hgvsp: ENSP00000401217.2:p.Val421Met
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val484Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-167370691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370691
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370691
    reference: chr 1
allele count: 2
allele frequency: 1.715530699421866e-5
allele num: 116582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1453G>A
  hgvsp: ENSP00000356840.2:p.Ala485Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1384G>A
  hgvsp: ENSP00000441285.2:p.Ala462Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1384G>A
  hgvsp: ENSP00000414660.3:p.Ala462Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1949G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1359G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1264G>A
  hgvsp: ENSP00000401217.2:p.Ala422Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1108G>A
  hgvsp: ENSP00000415993.1:p.Ala370Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1420G>A
  hgvsp: ENSP00000356836.5:p.Ala474Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1380G>A
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala485Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-167370691-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370691
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370691
    reference: chr 1
allele count: 1
allele frequency: 8.577653497109331e-6
allele num: 116582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1420G>T
  hgvsp: ENSP00000356836.5:p.Ala474Ser
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1380G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1359G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1384G>T
  hgvsp: ENSP00000414660.3:p.Ala462Ser
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1264G>T
  hgvsp: ENSP00000401217.2:p.Ala422Ser
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1453G>T
  hgvsp: ENSP00000356840.2:p.Ala485Ser
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1949G>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1108G>T
  hgvsp: ENSP00000415993.1:p.Ala370Ser
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1384G>T
  hgvsp: ENSP00000441285.2:p.Ala462Ser
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala485Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

1-167370692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370692
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370692
    reference: chr 1
allele count: 3
allele frequency: 2.570297640466766e-5
allele num: 116718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1265C>T
  hgvsp: ENSP00000401217.2:p.Ala422Val
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1454C>T
  hgvsp: ENSP00000356840.2:p.Ala485Val
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1950C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1360C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1421C>T
  hgvsp: ENSP00000356836.5:p.Ala474Val
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1381C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1385C>T
  hgvsp: ENSP00000414660.3:p.Ala462Val
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1385C>T
  hgvsp: ENSP00000441285.2:p.Ala462Val
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1109C>T
  hgvsp: ENSP00000415993.1:p.Ala370Val
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala485Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-167370693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370693
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370693
    reference: chr 1
allele count: 6
allele frequency: 5.121726363232834e-5
allele num: 117148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1386G>A
  hgvsp: ENST00000420254.3:c.1386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1361G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1422G>A
  hgvsp: ENST00000367862.5:c.1422G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1110G>A
  hgvsp: ENST00000443275.1:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1951G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1266G>A
  hgvsp: ENST00000429375.2:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1382G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1386G>A
  hgvsp: ENST00000541643.3:c.1386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1455G>A
  hgvsp: ENST00000367866.2:c.1455G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala485Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-167370716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370716
    reference: chr 1
allele count: 7
allele frequency: 5.917559936428499e-5
allele num: 118292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1133G>A
  hgvsp: ENSP00000415993.1:p.Ser378Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1478G>A
  hgvsp: ENSP00000356840.2:p.Ser493Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1445G>A
  hgvsp: ENSP00000356836.5:p.Ser482Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1384G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1974G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1289G>A
  hgvsp: ENSP00000401217.2:p.Ser430Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1409G>A
  hgvsp: ENSP00000414660.3:p.Ser470Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1405G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1409G>A
  hgvsp: ENSP00000441285.2:p.Ser470Asn
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser493Asn
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-167370724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370724
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370724
    reference: chr 1
allele count: 1
allele frequency: 8.469982382436644e-6
allele num: 118064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1413G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1982G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1141G>A
  hgvsp: ENSP00000415993.1:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1392G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1417G>A
  hgvsp: ENSP00000414660.3:p.Ala473Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1453G>A
  hgvsp: ENSP00000356836.5:p.Ala485Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1486G>A
  hgvsp: ENSP00000356840.2:p.Ala496Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1297G>A
  hgvsp: ENSP00000401217.2:p.Ala433Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1417G>A
  hgvsp: ENSP00000441285.2:p.Ala473Thr
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala496Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/1-167370726-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370726
    reference: chr 1
allele count: 1
allele frequency: 8.477162524159914e-6
allele num: 117964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1299A>C
  hgvsp: ENST00000429375.2:c.1299A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1488A>C
  hgvsp: ENST00000367866.2:c.1488A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1419A>C
  hgvsp: ENST00000541643.3:c.1419A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1419A>C
  hgvsp: ENST00000420254.3:c.1419A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1455A>C
  hgvsp: ENST00000367862.5:c.1455A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1984A>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1394A>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1415A>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1143A>C
  hgvsp: ENST00000443275.1:c.1143A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala496Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

1-167370727-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370727
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370727
    reference: chr 1
allele count: 1
allele frequency: 8.480613317955154e-6
allele num: 117916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1456A>G
  hgvsp: ENSP00000356836.5:p.Thr486Ala
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1144A>G
  hgvsp: ENSP00000415993.1:p.Thr382Ala
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1489A>G
  hgvsp: ENSP00000356840.2:p.Thr497Ala
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1300A>G
  hgvsp: ENSP00000401217.2:p.Thr434Ala
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1416A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1420A>G
  hgvsp: ENSP00000441285.2:p.Thr474Ala
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1420A>G
  hgvsp: ENSP00000414660.3:p.Thr474Ala
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1985A>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1395A>G
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr497Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-167370729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370729
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370729
    reference: chr 1
allele count: 1
allele frequency: 8.487667419239845e-6
allele num: 117818
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1491T>C
  hgvsp: ENST00000367866.2:c.1491T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1302T>C
  hgvsp: ENST00000429375.2:c.1302T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1146T>C
  hgvsp: ENST00000443275.1:c.1146T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1397T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1987T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1418T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1422T>C
  hgvsp: ENST00000420254.3:c.1422T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1458T>C
  hgvsp: ENST00000367862.5:c.1458T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1422T>C
  hgvsp: ENST00000541643.3:c.1422T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr497Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-167370740-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370740
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370740
    reference: chr 1
allele count: 1
allele frequency: 8.578830876928093e-6
allele num: 116566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1313T>C
  hgvsp: ENSP00000401217.2:p.Val438Ala
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1157T>C
  hgvsp: ENSP00000415993.1:p.Val386Ala
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1502T>C
  hgvsp: ENSP00000356840.2:p.Val501Ala
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1408T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1429T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1469T>C
  hgvsp: ENSP00000356836.5:p.Val490Ala
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1433T>C
  hgvsp: ENSP00000441285.2:p.Val478Ala
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.1998T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1433T>C
  hgvsp: ENSP00000414660.3:p.Val478Ala
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val501Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-167370743-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370743
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370743
    reference: chr 1
allele count: 1
allele frequency: 8.600670852326481e-6
allele num: 116270
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1505G>A
  hgvsp: ENSP00000356840.2:p.Ser502Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1160G>A
  hgvsp: ENSP00000415993.1:p.Ser387Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1436G>A
  hgvsp: ENSP00000414660.3:p.Ser479Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1316G>A
  hgvsp: ENSP00000401217.2:p.Ser439Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1411G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1436G>A
  hgvsp: ENSP00000441285.2:p.Ser479Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1472G>A
  hgvsp: ENSP00000356836.5:p.Ser491Asn
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.2001G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1432G>A
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser502Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ

1-167370746-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370746
    reference: chr 1
allele count: 1
allele frequency: 8.648274669203493e-6
allele num: 115630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1439C>G
  hgvsp: ENSP00000441285.2:p.Pro480Arg
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1508C>G
  hgvsp: ENSP00000356840.2:p.Pro503Arg
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1319C>G
  hgvsp: ENSP00000401217.2:p.Pro440Arg
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1475C>G
  hgvsp: ENSP00000356836.5:p.Pro492Arg
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1163C>G
  hgvsp: ENSP00000415993.1:p.Pro388Arg
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1414C>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.2004C>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1439C>G
  hgvsp: ENSP00000414660.3:p.Pro480Arg
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1435C>G
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10568
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro503Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-167370759-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370759
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370759
    reference: chr 1
allele count: 1
allele frequency: 8.97327757936864e-6
allele num: 111442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1427G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1332G>A
  hgvsp: ENST00000429375.2:c.1332G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1448G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.2017G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1452G>A
  hgvsp: ENST00000420254.3:c.1452G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1521G>A
  hgvsp: ENST00000367866.2:c.1521G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1452G>A
  hgvsp: ENST00000541643.3:c.1452G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1176G>A
  hgvsp: ENST00000443275.1:c.1176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1488G>A
  hgvsp: ENST00000367862.5:c.1488G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu507Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

1-167370761-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370761
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370761
    reference: chr 1
allele count: 1
allele frequency: 9.0046283789868e-6
allele num: 111054
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1523C>T
  hgvsp: ENSP00000356840.2:p.Thr508Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.2019C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1334C>T
  hgvsp: ENSP00000401217.2:p.Thr445Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1454C>T
  hgvsp: ENSP00000441285.2:p.Thr485Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1454C>T
  hgvsp: ENSP00000414660.3:p.Thr485Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1429C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1490C>T
  hgvsp: ENSP00000356836.5:p.Thr497Ile
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1450C>T
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1178C>T
  hgvsp: ENSP00000415993.1:p.Thr393Ile
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr508Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-167370768-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370768
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370768
    reference: chr 1
allele count: 1
allele frequency: 9.22951969579503e-6
allele num: 108348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1436T>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.2026T>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1497T>A
  hgvsp: ENST00000367862.5:c.1497T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1457T>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1341T>A
  hgvsp: ENST00000429375.2:c.1341T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1185T>A
  hgvsp: ENST00000443275.1:c.1185T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1461T>A
  hgvsp: ENST00000541643.3:c.1461T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1461T>A
  hgvsp: ENST00000420254.3:c.1461T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1530T>A
  hgvsp: ENST00000367866.2:c.1530T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31617
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala510Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-167370777-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370777
    reference: chr 1
allele count: 2
allele frequency: 1.913216499579092e-5
allele num: 104536
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1539G>A
  hgvsp: ENST00000367866.2:c.1539G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1506G>A
  hgvsp: ENST00000367862.5:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1350G>A
  hgvsp: ENST00000429375.2:c.1350G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1466G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1445G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1470G>A
  hgvsp: ENST00000541643.3:c.1470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1194G>A
  hgvsp: ENST00000443275.1:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1470G>A
  hgvsp: ENST00000420254.3:c.1470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.2035G>A
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28135
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr513Thr
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-167370779-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370779
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370779
    reference: chr 1
allele count: 2
allele frequency: 1.91662673694298e-5
allele num: 104350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.2037A>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1468A>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1472A>C
  hgvsp: ENSP00000414660.3:p.Asn491Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1541A>C
  hgvsp: ENSP00000356840.2:p.Asn514Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1352A>C
  hgvsp: ENSP00000401217.2:p.Asn451Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1196A>C
  hgvsp: ENSP00000415993.1:p.Asn399Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1508A>C
  hgvsp: ENSP00000356836.5:p.Asn503Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1472A>C
  hgvsp: ENSP00000441285.2:p.Asn491Thr
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1447A>C
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27919
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn514Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-167370782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370782
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370782
    reference: chr 1
allele count: 1
allele frequency: 9.700638302000272e-6
allele num: 103086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.2040T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1199T>C
  hgvsp: ENSP00000415993.1:p.Leu400Pro
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1475T>C
  hgvsp: ENSP00000414660.3:p.Leu492Pro
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1475T>C
  hgvsp: ENSP00000441285.2:p.Leu492Pro
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1511T>C
  hgvsp: ENSP00000356836.5:p.Leu504Pro
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1450T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1355T>C
  hgvsp: ENSP00000401217.2:p.Leu452Pro
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1471T>C
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1544T>C
  hgvsp: ENSP00000356840.2:p.Leu515Pro
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu515Pro
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-167370802-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370802
    reference: chr 1
allele count: 1
allele frequency: 1.077679110268127e-5
allele num: 92792
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1555+9C>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1482+9C>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1366+9C>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1461+9C>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1486+9C>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1210+9C>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.2051+9C>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1522+9C>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1486+9C>A
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20256
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-167370806-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370806
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370806
    reference: chr 1
allele count: 10
allele frequency: 1.114553844096208e-4
allele num: 89722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1486+13C>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.2051+13C>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1482+13C>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1522+13C>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1461+13C>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1210+13C>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1366+13C>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1555+13C>G
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1486+13C>G
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22204
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13934
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-167370808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167370808
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 167370808
    reference: chr 1
allele count: 1
allele frequency: 1.11929439681225e-5
allele num: 89342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000367865
  gene symbol: POU2F1
  hgvsc: ENST00000367865.1:n.2051+15G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000441285
  ensembl transcript: ENST00000541643
  gene symbol: POU2F1
  hgvsc: ENST00000541643.3:c.1486+15G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl transcript: ENST00000557874
  gene symbol: POU2F1
  hgvsc: ENST00000557874.1:n.1461+15G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000414660
  ensembl transcript: ENST00000420254
  gene symbol: POU2F1
  hgvsc: ENST00000420254.3:c.1486+15G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356836
  ensembl transcript: ENST00000367862
  gene symbol: POU2F1
  hgvsc: ENST00000367862.5:c.1522+15G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000415993
  ensembl transcript: ENST00000443275
  gene symbol: POU2F1
  hgvsc: ENST00000443275.1:c.1210+15G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000271411
  ensembl transcript: ENST00000271411
  gene symbol: POU2F1
  hgvsc: ENST00000271411.4:c.*1482+15G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000401217
  ensembl transcript: ENST00000429375
  gene symbol: POU2F1
  hgvsc: ENST00000429375.2:c.1366+15G>A
  variant of: http://identifiers.org/hgnc/9212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143190
  ensembl protein: ENSP00000356840
  ensembl transcript: ENST00000367866
  gene symbol: POU2F1
  hgvsc: ENST00000367866.2:c.1555+15G>A
  variant of: http://identifiers.org/hgnc/9212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 12798
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3537
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4568
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.491820306413918e-5
allele num: 15404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510482750286992e-5
allele num: 66204
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 4.08e0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

QD
type: SiteQuality
SIO_000300: 1.335e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

DP
type: SiteQuality
SIO_000300: 2.013964e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.025e0

GenotypeQuality
all individuals: 989
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12803
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5333
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 2
allele frequency: 3.022974607013301e-5
allele num: 66160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15322
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.542e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.438e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.011478e6

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5333
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12803
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 634
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.808617041738796e-4
allele num: 10398
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: 15322
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.438e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

QD
type: SiteQuality
SIO_000300: 1.248e1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

DP
type: SiteQuality
SIO_000300: 2.011478e6

FS
type: SiteQuality
SIO_000300: 3.542e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 1876
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4570
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12800
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17237
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5337
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3012
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
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: 8642
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

DP
type: SiteQuality
SIO_000300: 2.009412e6

QD
type: SiteQuality
SIO_000300: 1.253e1

FS
type: SiteQuality
SIO_000300: 6.16e0

MQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.943e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

GenotypeQuality
all individuals: 257
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4565
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6863
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12798
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 10386
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.493e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

DP
type: SiteQuality
SIO_000300: 1.999075e6

VQSLOD
type: SiteQuality
SIO_000300: 4.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

FS
type: SiteQuality
SIO_000300: 1.777e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

GenotypeQuality
all individuals: 12801
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6680
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5316
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13698
bin: 6.25e1
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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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10382
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517634917744187e-5
allele num: 65892
num of homozygotes: 0

VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

South Asian
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allele frequency: 6.845564074479737e-5
allele num: 14608
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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MQRankSum
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SIO_000300: 4.66e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
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allele count: 2
allele frequency: 3.058010458395768e-5
allele num: 65402
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.195285e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 3.288e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14648
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.744287458573173e-4
allele num: 11466
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
SIO_000300: 9.58e0

FS
type: SiteQuality
SIO_000300: 2.195e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 2.20183e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-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: 4.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527463799107961e-5
allele num: 65468
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.205502e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.681e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-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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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65508
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.763154335181928e-5
allele num: 14786
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
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ClippingRankSum
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MQ
type: SiteQuality
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523368472366096e-5
allele num: 65644
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522533495736906e-5
allele num: 65680
num of homozygotes: 0

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

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

East Asian
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
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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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
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allele frequency: 1.518141794443601e-5
allele num: 65870
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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FS
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MQ
type: SiteQuality
SIO_000300: 5.897e1

QD
type: SiteQuality
SIO_000300: 1.101e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.308e0

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514646632940535e-5
allele num: 66022
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
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FS
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SIO_000300: 6.717e0

InbreedingCoeff
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ReadPosRankSum
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DP
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MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
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SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele count: 1
allele frequency: 1.50879628232596e-5
allele num: 66278
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8522
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
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.65e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.267e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507477086348288e-5
allele num: 66336
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.649e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-2

DP
type: SiteQuality
SIO_000300: 2.254704e6

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -9.389999999999999e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.29e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1971
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variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

DP
type: SiteQuality
SIO_000300: 2.255808e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

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

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -5.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

South Asian
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allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

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

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

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

East Asian
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

South Asian
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allele count: 3
allele frequency: 1.819725827975252e-4
allele num: 16486
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8586
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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FS
type: SiteQuality
SIO_000300: 6.974e0

InbreedingCoeff
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.006006006006006e-5
allele num: 66600
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

DP
type: SiteQuality
SIO_000300: 2.259616e6

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

QD
type: SiteQuality
SIO_000300: 1.291e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 4.365223717715533e-3
allele num: 16494
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8590
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Latino
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allele frequency: 0.0e0
allele num: 11542
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 1.158e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.234e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.258511e6

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.28e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

QD
type: SiteQuality
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VQSLOD
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SIO_000300: 2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.258513e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.394e0

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

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

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

Other
type: Population
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 2.409e0

ClippingRankSum
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SIO_000300: -1.55e0

MQRankSum
type: SiteQuality
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
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MQ
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MQRankSum
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SIO_000300: 1.01e0

ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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DP
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QD
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SIO_000300: 1.282e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.484e0

MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
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QD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.555e0

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

African
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allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506977304921788e-5
allele num: 66358
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.244094e6

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.877346683354193e-4
allele num: 15980
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9996
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VQSLOD
type: SiteQuality
SIO_000300: 1.5e-2

FS
type: SiteQuality
SIO_000300: 2.026e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ClippingRankSum
type: SiteQuality
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DP
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BaseQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.945e1

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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variant carriers: 0

African
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allele count: 1
allele frequency: 1.004823151125402e-4
allele num: 9952
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.698e1

DP
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.482e0

FS
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele num: 9908
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East Asian
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South Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele num: 9898
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

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

Latino
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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South Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65646
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Latino
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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East Asian
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allele frequency: 1.174812030075188e-4
allele num: 8512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65494
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.163509e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.465e1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.037e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.933e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.579813133307015e-5
allele num: 15198
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 3.462e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 9.574e0

MQ
type: SiteQuality
SIO_000300: 6.063e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.866e0

DP
type: SiteQuality
SIO_000300: 2.122363e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64726
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.842753524018066e-5
allele num: 14614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.994e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.286e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.022e0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 2.067195e6

QD
type: SiteQuality
SIO_000300: 1.43e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-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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bin: 9.75e1
variant carriers: 6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.105090311986864e-4
allele num: 14616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64690
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.994e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

DP
type: SiteQuality
SIO_000300: 2.06679e6

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.438e1

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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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: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.841817186644773e-5
allele num: 14616
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.06679e6

MQ
type: SiteQuality
SIO_000300: 5.994e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

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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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.802281368821293e-5
allele num: 52600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5328
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6800
num of homozygotes: 0

African
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: 706
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.324e0

DP
type: SiteQuality
SIO_000300: 1.005713e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

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: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8754
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.890168849613381e-5
allele num: 12674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.123809e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

VQSLOD
type: SiteQuality
SIO_000300: 1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.44e1

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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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.801529099703542e-5
allele num: 12818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

FS
type: SiteQuality
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QD
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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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.172509e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.746724890829694e-5
allele num: 57250
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13232
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 2.214e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 40632
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.30246823426318e-5
allele num: 13694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.146e1

DP
type: SiteQuality
SIO_000300: 1.314886e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.027e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.507e-1

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 9.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.204712812960235e-5
allele num: 10864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15046
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.424126e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
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SIO_000300: -1.036e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.571e0

VQSLOD
type: SiteQuality
SIO_000300: 2.84e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544449249397665e-5
allele num: 64748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10956
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.585012511523772e-5
allele num: 15186
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.082e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

DP
type: SiteQuality
SIO_000300: 1.431496e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.645e0

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2045
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.127418765972983e-5
allele num: 10956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64748
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.645e0

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.082e1

DP
type: SiteQuality
SIO_000300: 1.431496e6

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
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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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GenotypeQuality
all individuals: 401
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.62934386766249e-5
allele num: 64804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.006e1

FS
type: SiteQuality
SIO_000300: 6.729e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.43573e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.64e-1

GenotypeQuality
all individuals: 308
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 107
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 48767
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.077207126811705e-5
allele num: 64994
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.09090909090909e-5
allele num: 11000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.98373338623289e-4
allele num: 10082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15320
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

FS
type: SiteQuality
SIO_000300: 1.204e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.440232e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.339e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.06788710907704e-4
allele num: 65550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.234e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.938e0

FS
type: SiteQuality
SIO_000300: 4.054e0

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.453653e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527743827914935e-5
allele num: 65456
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11136
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15494
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.45266e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: -3.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e0

GenotypeQuality
all individuals: 224
bin: 9.25e1
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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GenotypeQuality
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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: 407
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GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.47332988089073e-5
allele num: 15448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65446
num of homozygotes: 0

European (Finnish)
type: Population
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allele frequency: 0.0e0
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Latino
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African
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East Asian
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FS
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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East Asian
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African
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European (Non-Finnish)
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FS
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Other
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.54397233201581e-5
allele num: 64768
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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Latino
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African
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European (Non-Finnish)
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Other
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BaseQRankSum
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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South Asian
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African
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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South Asian
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DP
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MQ
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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East Asian
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Latino
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DP
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FS
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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QD
type: SiteQuality
SIO_000300: 1.489e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

FS
type: SiteQuality
SIO_000300: 8.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 1.314898e6

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 32052
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.459010722933241e-5
allele num: 57820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.188e0

QD
type: SiteQuality
SIO_000300: 1.18e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.261669e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

FS
type: SiteQuality
SIO_000300: 1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14645
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32622
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1746
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.536783358701167e-4
allele num: 7884
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5478
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

QD
type: SiteQuality
SIO_000300: 2.082e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.254154e6

VQSLOD
type: SiteQuality
SIO_000300: -1.232e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.825e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

GenotypeQuality
all individuals: 1000
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16014
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.754509088357078e-5
allele num: 56996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7774
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

DP
type: SiteQuality
SIO_000300: 1.234179e6

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 5.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.26e0

QD
type: SiteQuality
SIO_000300: 1.817e1

GenotypeQuality
all individuals: 477
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 440
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16220
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4818
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.419647927314026e-4
allele num: 7044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.04336e6

FS
type: SiteQuality
SIO_000300: 3.358e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

QD
type: SiteQuality
SIO_000300: 1.151e1

GenotypeQuality
all individuals: 173
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3760
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1607
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12534
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6782
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.151287903488751e-5
allele num: 12268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.823486506199854e-4
allele num: 49356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.391e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e0

DP
type: SiteQuality
SIO_000300: 9.98529e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1