17-7139734-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139734
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139734
    reference: chr 17
allele count: 2
allele frequency: 1.665584037042589e-5
allele num: 120078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.122A>C
  hgvsp: ENSP00000460876.1:p.Gln41Pro
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.500A>C
  hgvsp: ENSP00000414607.2:p.Gln167Pro
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.311A>C
  hgvsp: ENSP00000460738.1:p.Gln104Pro
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.122A>C
  hgvsp: ENSP00000459983.1:p.Gln41Pro
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.524A>C
  hgvsp: ENSP00000458416.1:p.Gln175Pro
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.485A>C
  hgvsp: ENSP00000461442.1:p.Gln162Pro
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.512A>C
  hgvsp: ENSP00000322579.3:p.Gln171Pro
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.122A>C
  hgvsp: ENSP00000458953.1:p.Gln41Pro
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln171Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-7139747-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139747
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139747
    reference: chr 17
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.487G>T
  hgvsp: ENSP00000414607.2:p.Val163Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.109G>T
  hgvsp: ENSP00000458953.1:p.Val37Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.511G>T
  hgvsp: ENSP00000458416.1:p.Val171Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.109G>T
  hgvsp: ENSP00000459983.1:p.Val37Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.109G>T
  hgvsp: ENSP00000460876.1:p.Val37Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.499G>T
  hgvsp: ENSP00000322579.3:p.Val167Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.472G>T
  hgvsp: ENSP00000461442.1:p.Val158Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.298G>T
  hgvsp: ENSP00000460738.1:p.Val100Leu
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29219
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val167Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-7139747-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139747
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139747
    reference: chr 17
allele count: 286
allele frequency: 2.381467850184023e-3
allele num: 120094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.487G>C
  hgvsp: ENSP00000414607.2:p.Val163Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.109G>C
  hgvsp: ENSP00000459983.1:p.Val37Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.109G>C
  hgvsp: ENSP00000460876.1:p.Val37Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.511G>C
  hgvsp: ENSP00000458416.1:p.Val171Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.298G>C
  hgvsp: ENSP00000460738.1:p.Val100Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.109G>C
  hgvsp: ENSP00000458953.1:p.Val37Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.499G>C
  hgvsp: ENSP00000322579.3:p.Val167Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.472G>C
  hgvsp: ENSP00000461442.1:p.Val158Leu
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14642
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22534
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7346
  bin: 9.75e1
  variant carriers: 285
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val167Leu
num of homozygotes: 2
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

17-7139747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139747
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139747
    reference: chr 17
allele count: 4
allele frequency: 3.33072426599164e-5
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.511G>A
  hgvsp: ENSP00000458416.1:p.Val171Met
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.109G>A
  hgvsp: ENSP00000460876.1:p.Val37Met
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.487G>A
  hgvsp: ENSP00000414607.2:p.Val163Met
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.109G>A
  hgvsp: ENSP00000459983.1:p.Val37Met
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.499G>A
  hgvsp: ENSP00000322579.3:p.Val167Met
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.472G>A
  hgvsp: ENSP00000461442.1:p.Val158Met
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.109G>A
  hgvsp: ENSP00000458953.1:p.Val37Met
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.298G>A
  hgvsp: ENSP00000460738.1:p.Val100Met
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7346
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8387
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val167Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-7139748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139748
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139748
    reference: chr 17
allele count: 3
allele frequency: 2.497918401332223e-5
allele num: 120100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.108C>T
  hgvsp: ENST00000574236.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.108C>T
  hgvsp: ENST00000574323.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.486C>T
  hgvsp: ENST00000454255.2:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.498C>T
  hgvsp: ENST00000320316.3:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.108C>T
  hgvsp: ENST00000576955.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.471C>T
  hgvsp: ENST00000573826.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.510C>T
  hgvsp: ENST00000570899.1:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.297C>T
  hgvsp: ENST00000571362.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.108C>T
  hgvsp: ENST00000572789.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7087
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29389
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro166Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-7139761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139761
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139761
    reference: chr 17
allele count: 1
allele frequency: 8.320713584396998e-6
allele num: 120182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.284C>T
  hgvsp: ENSP00000460738.1:p.Ala95Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.497C>T
  hgvsp: ENSP00000458416.1:p.Ala166Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.95C>T
  hgvsp: ENSP00000458953.1:p.Ala32Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.95C>T
  hgvsp: ENSP00000459983.1:p.Ala32Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.473C>T
  hgvsp: ENSP00000414607.2:p.Ala158Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.95C>T
  hgvsp: ENSP00000458401.1:p.Ala32Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.95C>T
  hgvsp: ENSP00000460876.1:p.Ala32Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.458C>T
  hgvsp: ENSP00000461442.1:p.Ala153Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.485C>T
  hgvsp: ENSP00000322579.3:p.Ala162Val
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala162Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-7139767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139767
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139767
    reference: chr 17
allele count: 1
allele frequency: 8.318913882603488e-6
allele num: 120208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.278C>T
  hgvsp: ENSP00000460738.1:p.Pro93Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.89C>T
  hgvsp: ENSP00000458953.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.491C>T
  hgvsp: ENSP00000458416.1:p.Pro164Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.452C>T
  hgvsp: ENSP00000461442.1:p.Pro151Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.479C>T
  hgvsp: ENSP00000322579.3:p.Pro160Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.89C>T
  hgvsp: ENSP00000458401.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.89C>T
  hgvsp: ENSP00000459983.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.89C>T
  hgvsp: ENSP00000460876.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.467C>T
  hgvsp: ENSP00000414607.2:p.Pro156Leu
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro160Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

17-7139768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139768
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139768
    reference: chr 17
allele count: 1
allele frequency: 8.318221896887321e-6
allele num: 120218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.466C>T
  hgvsp: ENSP00000414607.2:p.Pro156Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.88C>T
  hgvsp: ENSP00000459983.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.88C>T
  hgvsp: ENSP00000458953.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.277C>T
  hgvsp: ENSP00000460738.1:p.Pro93Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.88C>T
  hgvsp: ENSP00000460876.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.88C>T
  hgvsp: ENSP00000458401.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.490C>T
  hgvsp: ENSP00000458416.1:p.Pro164Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.478C>T
  hgvsp: ENSP00000322579.3:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.451C>T
  hgvsp: ENSP00000461442.1:p.Pro151Ser
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro160Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-7139770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139770
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139770
    reference: chr 17
allele count: 3
allele frequency: 2.495383540450167e-5
allele num: 120222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.86G>A
  hgvsp: ENSP00000460876.1:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.464G>A
  hgvsp: ENSP00000414607.2:p.Arg155Gln
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.488G>A
  hgvsp: ENSP00000458416.1:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.86G>A
  hgvsp: ENSP00000458953.1:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.86G>A
  hgvsp: ENSP00000458401.1:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.476G>A
  hgvsp: ENSP00000322579.3:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.449G>A
  hgvsp: ENSP00000461442.1:p.Arg150Gln
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.86G>A
  hgvsp: ENSP00000459983.1:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.275G>A
  hgvsp: ENSP00000460738.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8439
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg159Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

17-7139776-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139776
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139776
    reference: chr 17
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.80C>A
  hgvsp: ENSP00000458401.1:p.Thr27Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.470C>A
  hgvsp: ENSP00000322579.3:p.Thr157Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.80C>A
  hgvsp: ENSP00000460876.1:p.Thr27Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.482C>A
  hgvsp: ENSP00000458416.1:p.Thr161Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.80C>A
  hgvsp: ENSP00000459983.1:p.Thr27Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.443C>A
  hgvsp: ENSP00000461442.1:p.Thr148Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.269C>A
  hgvsp: ENSP00000460738.1:p.Thr90Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.458C>A
  hgvsp: ENSP00000414607.2:p.Thr153Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.80C>A
  hgvsp: ENSP00000458953.1:p.Thr27Asn
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr157Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

17-7139782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139782
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139782
    reference: chr 17
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.452C>T
  hgvsp: ENSP00000414607.2:p.Thr151Ile
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.74C>T
  hgvsp: ENSP00000459983.1:p.Thr25Ile
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.437C>T
  hgvsp: ENSP00000461442.1:p.Thr146Ile
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.74C>T
  hgvsp: ENSP00000458953.1:p.Thr25Ile
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.74C>T
  hgvsp: ENSP00000458401.1:p.Thr25Ile
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.263C>T
  hgvsp: ENSP00000460738.1:p.Thr88Ile
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.74C>T
  hgvsp: ENSP00000460876.1:p.Thr25Ile
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.476C>T
  hgvsp: ENSP00000458416.1:p.Thr159Ile
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.464C>T
  hgvsp: ENSP00000322579.3:p.Thr155Ile
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr155Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

17-7139787-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139787
    reference: chr 17
allele count: 94
allele frequency: 7.801347807323308e-4
allele num: 120492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.69C>A
  hgvsp: ENST00000574323.1:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.69C>A
  hgvsp: ENST00000576955.1:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.69C>A
  hgvsp: ENST00000572789.1:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.432C>A
  hgvsp: ENST00000573826.1:c.432C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.69C>A
  hgvsp: ENST00000574236.1:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.258C>A
  hgvsp: ENST00000571362.1:c.258C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.471C>A
  hgvsp: ENST00000570899.1:c.471C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.459C>A
  hgvsp: ENST00000320316.3:c.459C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.447C>A
  hgvsp: ENST00000454255.2:c.447C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14767
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22878
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 9.75e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser153Ser
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-7139793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139793
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139793
    reference: chr 17
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.441C>T
  hgvsp: ENST00000454255.2:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.426C>T
  hgvsp: ENST00000573826.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.465C>T
  hgvsp: ENST00000570899.1:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.63C>T
  hgvsp: ENST00000574323.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.453C>T
  hgvsp: ENST00000320316.3:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.63C>T
  hgvsp: ENST00000574236.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.63C>T
  hgvsp: ENST00000576955.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.63C>T
  hgvsp: ENST00000572789.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.252C>T
  hgvsp: ENST00000571362.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30169
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro151Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-7139794-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139794
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139794
    reference: chr 17
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.425C>G
  hgvsp: ENSP00000461442.1:p.Pro142Arg
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.464C>G
  hgvsp: ENSP00000458416.1:p.Pro155Arg
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.62C>G
  hgvsp: ENSP00000459983.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.452C>G
  hgvsp: ENSP00000322579.3:p.Pro151Arg
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.62C>G
  hgvsp: ENSP00000460876.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.62C>G
  hgvsp: ENSP00000458953.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.62C>G
  hgvsp: ENSP00000458401.1:p.Pro21Arg
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.251C>G
  hgvsp: ENSP00000460738.1:p.Pro84Arg
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.440C>G
  hgvsp: ENSP00000414607.2:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro151Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

17-7139799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139799
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139799
    reference: chr 17
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.435G>A
  hgvsp: ENST00000454255.2:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.246G>A
  hgvsp: ENST00000571362.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.420G>A
  hgvsp: ENST00000573826.1:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.57G>A
  hgvsp: ENST00000576955.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.447G>A
  hgvsp: ENST00000320316.3:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.57G>A
  hgvsp: ENST00000574323.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.57G>A
  hgvsp: ENST00000572789.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.459G>A
  hgvsp: ENST00000570899.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.57G>A
  hgvsp: ENST00000574236.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu149Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-7139805-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139805
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139805
    reference: chr 17
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.51T>G
  hgvsp: ENST00000572789.1:c.51T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.414T>G
  hgvsp: ENST00000573826.1:c.414T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.453T>G
  hgvsp: ENST00000570899.1:c.453T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.51T>G
  hgvsp: ENST00000574323.1:c.51T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.51T>G
  hgvsp: ENST00000576955.1:c.51T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.429T>G
  hgvsp: ENST00000454255.2:c.429T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.51T>G
  hgvsp: ENST00000574236.1:c.51T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.441T>G
  hgvsp: ENST00000320316.3:c.441T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.240T>G
  hgvsp: ENST00000571362.1:c.240T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser147Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-7139807-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139807
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139807
    reference: chr 17
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.49T>A
  hgvsp: ENSP00000458401.1:p.Ser17Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.238T>A
  hgvsp: ENSP00000460738.1:p.Ser80Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.439T>A
  hgvsp: ENSP00000322579.3:p.Ser147Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.451T>A
  hgvsp: ENSP00000458416.1:p.Ser151Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.49T>A
  hgvsp: ENSP00000459983.1:p.Ser17Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.49T>A
  hgvsp: ENSP00000460876.1:p.Ser17Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.412T>A
  hgvsp: ENSP00000461442.1:p.Ser138Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.49T>A
  hgvsp: ENSP00000458953.1:p.Ser17Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.427T>A
  hgvsp: ENSP00000414607.2:p.Ser143Thr
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser147Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

17-7139825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139825
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139825
    reference: chr 17
allele count: 26
allele frequency: 2.15367284052881e-4
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.394G>A
  hgvsp: ENSP00000461442.1:p.Asp132Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.31G>A
  hgvsp: ENSP00000458953.1:p.Asp11Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.433G>A
  hgvsp: ENSP00000458416.1:p.Asp145Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.31G>A
  hgvsp: ENSP00000459983.1:p.Asp11Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.31G>A
  hgvsp: ENSP00000460876.1:p.Asp11Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.31G>A
  hgvsp: ENSP00000458401.1:p.Asp11Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.409G>A
  hgvsp: ENSP00000414607.2:p.Asp137Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.421G>A
  hgvsp: ENSP00000322579.3:p.Asp141Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.220G>A
  hgvsp: ENSP00000460738.1:p.Asp74Asn
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7017
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp141Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-7139869-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139869
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139869
    reference: chr 17
allele count: 4
allele frequency: 3.312684268062411e-5
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.365C>A
  hgvsp: ENSP00000414607.2:p.Thr122Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.377C>A
  hgvsp: ENSP00000322579.3:p.Thr126Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.176C>A
  hgvsp: ENSP00000460738.1:p.Thr59Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.350C>A
  hgvsp: ENSP00000461442.1:p.Thr117Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.389C>A
  hgvsp: ENSP00000458416.1:p.Thr130Asn
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr126Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-7139879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139879
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139879
    reference: chr 17
allele count: 2
allele frequency: 1.656287266463495e-5
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.367G>A
  hgvsp: ENSP00000322579.3:p.Asp123Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.166G>A
  hgvsp: ENSP00000460738.1:p.Asp56Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.355G>A
  hgvsp: ENSP00000414607.2:p.Asp119Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.340G>A
  hgvsp: ENSP00000461442.1:p.Asp114Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.379G>A
  hgvsp: ENSP00000458416.1:p.Asp127Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp123Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum

17-7139880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139880
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139880
    reference: chr 17
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.339C>T
  hgvsp: ENST00000573826.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.378C>T
  hgvsp: ENST00000570899.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.366C>T
  hgvsp: ENST00000320316.3:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.354C>T
  hgvsp: ENST00000454255.2:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.165C>T
  hgvsp: ENST00000571362.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro122Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

17-7139882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139882
    reference: chr 17
allele count: 4
allele frequency: 3.312464805061446e-5
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.352C>T
  hgvsp: ENSP00000414607.2:p.Pro118Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.364C>T
  hgvsp: ENSP00000322579.3:p.Pro122Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.337C>T
  hgvsp: ENSP00000461442.1:p.Pro113Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.376C>T
  hgvsp: ENSP00000458416.1:p.Pro126Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.163C>T
  hgvsp: ENSP00000460738.1:p.Pro55Ser
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro122Ser
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-7139893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139893
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139893
    reference: chr 17
allele count: 4
allele frequency: 3.312464805061446e-5
allele num: 120756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-8G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-38G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.326G>A
  hgvsp: ENSP00000461442.1:p.Arg109His
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.353G>A
  hgvsp: ENSP00000322579.3:p.Arg118His
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-38G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.365G>A
  hgvsp: ENSP00000458416.1:p.Arg122His
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.341G>A
  hgvsp: ENSP00000414607.2:p.Arg114His
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-38G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-38G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-38G>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6984
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Arg118His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

17-7139894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139894
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139894
    reference: chr 17
allele count: 6
allele frequency: 4.968532626697582e-5
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.352C>T
  hgvsp: ENSP00000322579.3:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.364C>T
  hgvsp: ENSP00000458416.1:p.Arg122Cys
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.325C>T
  hgvsp: ENSP00000461442.1:p.Arg109Cys
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.340C>T
  hgvsp: ENSP00000414607.2:p.Arg114Cys
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-9C>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg118Cys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

17-7139894-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139894
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139894
    reference: chr 17
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-39C>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.352C>A
  hgvsp: ENSP00000322579.3:p.Arg118Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-39C>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-39C>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-39C>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.325C>A
  hgvsp: ENSP00000461442.1:p.Arg109Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-9C>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.340C>A
  hgvsp: ENSP00000414607.2:p.Arg114Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.364C>A
  hgvsp: ENSP00000458416.1:p.Arg122Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-39C>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg118Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS

17-7139895-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139895
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139895
    reference: chr 17
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-40T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.363T>C
  hgvsp: ENST00000570899.1:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-40T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-10T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.351T>C
  hgvsp: ENST00000320316.3:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.339T>C
  hgvsp: ENST00000454255.2:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-40T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.324T>C
  hgvsp: ENST00000573826.1:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-40T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-40T>C
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser117Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-7139899-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139899
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139899
    reference: chr 17
allele count: 4
allele frequency: 3.312355084465055e-5
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-44T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.335T>G
  hgvsp: ENSP00000414607.2:p.Phe112Cys
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.359T>G
  hgvsp: ENSP00000458416.1:p.Phe120Cys
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.320T>G
  hgvsp: ENSP00000461442.1:p.Phe107Cys
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-44T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-14T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.347T>G
  hgvsp: ENSP00000322579.3:p.Phe116Cys
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-44T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-44T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-44T>G
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe116Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-7139907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139907
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139907
    reference: chr 17
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.339G>A
  hgvsp: ENST00000320316.3:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-22G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.327G>A
  hgvsp: ENST00000454255.2:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.312G>A
  hgvsp: ENST00000573826.1:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.351G>A
  hgvsp: ENST00000570899.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-52G>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg113Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

17-7139911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139911
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139911
    reference: chr 17
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-56C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.335C>T
  hgvsp: ENSP00000322579.3:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.347C>T
  hgvsp: ENSP00000458416.1:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-56C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.323C>T
  hgvsp: ENSP00000414607.2:p.Pro108Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-26C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.308C>T
  hgvsp: ENSP00000461442.1:p.Pro103Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-56C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-56C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-56C>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro112Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

17-7139913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139913
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139913
    reference: chr 17
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-28C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-58C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.345C>T
  hgvsp: ENST00000570899.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.321C>T
  hgvsp: ENST00000454255.2:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.333C>T
  hgvsp: ENST00000320316.3:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-58C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-58C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.306C>T
  hgvsp: ENST00000573826.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-58C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-58C>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6971
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro111Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

17-7139920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139920
    reference: chr 17
allele count: 25
allele frequency: 2.070187641807854e-4
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.338C>T
  hgvsp: ENSP00000458416.1:p.Pro113Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-65C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-65C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-65C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-35C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-65C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.326C>T
  hgvsp: ENSP00000322579.3:p.Pro109Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.299C>T
  hgvsp: ENSP00000461442.1:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.314C>T
  hgvsp: ENSP00000414607.2:p.Pro105Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-65C>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro109Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-7139925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139925
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139925
    reference: chr 17
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-70C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-70C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-40C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.309C>T
  hgvsp: ENST00000454255.2:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-70C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.333C>T
  hgvsp: ENST00000570899.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-70C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.321C>T
  hgvsp: ENST00000320316.3:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.294C>T
  hgvsp: ENST00000573826.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-70C>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr107Thr
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-7139964-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139964
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139964
    reference: chr 17
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.362A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-109A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-109A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-109A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.255A>G
  hgvsp: ENST00000573826.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.282A>G
  hgvsp: ENST00000320316.3:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.382A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.294A>G
  hgvsp: ENST00000570899.1:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.270A>G
  hgvsp: ENST00000454255.2:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-79A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-109A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-109A>G
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala94Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

17-7139966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139966
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139966
    reference: chr 17
allele count: 4
allele frequency: 3.31356241094801e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.292G>A
  hgvsp: ENSP00000458416.1:p.Ala98Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-111G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.268G>A
  hgvsp: ENSP00000414607.2:p.Ala90Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.253G>A
  hgvsp: ENSP00000461442.1:p.Ala85Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-111G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-111G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-81G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-111G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-111G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.360G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.380G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.280G>A
  hgvsp: ENSP00000322579.3:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala94Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

17-7139992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7139992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7139992
    reference: chr 17
allele count: 5
allele frequency: 4.147725387397552e-5
allele num: 120548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.227G>A
  hgvsp: ENSP00000461442.1:p.Arg76Gln
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-137G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-137G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-107G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-137G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-137G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.266G>A
  hgvsp: ENSP00000458416.1:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-137G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.354G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.334G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.242G>A
  hgvsp: ENSP00000414607.2:p.Arg81Gln
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.254G>A
  hgvsp: ENSP00000322579.3:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg85Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-7140009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140009
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140009
    reference: chr 17
allele count: 3
allele frequency: 2.493641214902e-5
allele num: 120306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-154G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-154G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.317G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-124G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.337G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.210G>A
  hgvsp: ENST00000573826.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.225G>A
  hgvsp: ENST00000454255.2:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.237G>A
  hgvsp: ENST00000320316.3:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-154G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.249G>A
  hgvsp: ENST00000570899.1:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-154G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-154G>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser79Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-7140010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140010
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140010
    reference: chr 17
allele count: 3
allele frequency: 2.493848507016027e-5
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.316C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-155C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.336C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.248C>T
  hgvsp: ENSP00000458416.1:p.Ser83Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.236C>T
  hgvsp: ENSP00000322579.3:p.Ser79Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.224C>T
  hgvsp: ENSP00000414607.2:p.Ser75Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-155C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-155C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.209C>T
  hgvsp: ENSP00000461442.1:p.Ser70Leu
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-155C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-155C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-125C>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22787
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser79Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-7140011-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140011
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140011
    reference: chr 17
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.247T>A
  hgvsp: ENSP00000458416.1:p.Ser83Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.208T>A
  hgvsp: ENSP00000461442.1:p.Ser70Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-156T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.235T>A
  hgvsp: ENSP00000322579.3:p.Ser79Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.315T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.223T>A
  hgvsp: ENSP00000414607.2:p.Ser75Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-156T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-126T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-156T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-156T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-156T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.335T>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser79Thr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

17-7140014-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140014
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140014
    reference: chr 17
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-159G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.312G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-129G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-159G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.332G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.232G>C
  hgvsp: ENSP00000322579.3:p.Asp78His
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-159G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.220G>C
  hgvsp: ENSP00000414607.2:p.Asp74His
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-159G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-159G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.244G>C
  hgvsp: ENSP00000458416.1:p.Asp82His
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.205G>C
  hgvsp: ENSP00000461442.1:p.Asp69His
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp78His
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

17-7140018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140018
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140018
    reference: chr 17
allele count: 1
allele frequency: 8.324453915823122e-6
allele num: 120128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-133C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.228C>T
  hgvsp: ENST00000320316.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.328C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-163C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.240C>T
  hgvsp: ENST00000570899.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-163C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.201C>T
  hgvsp: ENST00000573826.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-163C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.216C>T
  hgvsp: ENST00000454255.2:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.308C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-163C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-163C>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly76Gly
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD

17-7140029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140029
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140029
    reference: chr 17
allele count: 1
allele frequency: 8.350451759440186e-6
allele num: 119754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-174G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.205G>A
  hgvsp: ENSP00000414607.2:p.Asp69Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-174G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.229G>A
  hgvsp: ENSP00000458416.1:p.Asp77Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.217G>A
  hgvsp: ENSP00000322579.3:p.Asp73Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-174G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.190G>A
  hgvsp: ENSP00000461442.1:p.Asp64Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-174G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.317G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-174G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.297G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-144G>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp73Asn
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

17-7140030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140030
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140030
    reference: chr 17
allele count: 2
allele frequency: 1.670201927413024e-5
allele num: 119746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.296C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-175C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.189C>T
  hgvsp: ENST00000573826.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.228C>T
  hgvsp: ENST00000570899.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-175C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-175C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.316C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-175C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.204C>T
  hgvsp: ENST00000454255.2:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.216C>T
  hgvsp: ENST00000320316.3:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-175C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-145C>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala72Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

17-7140031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140031
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140031
    reference: chr 17
allele count: 2
allele frequency: 1.67089961235129e-5
allele num: 119696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.227C>T
  hgvsp: ENSP00000458416.1:p.Ala76Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.315C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.295C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.203C>T
  hgvsp: ENSP00000414607.2:p.Ala68Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-176C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.188C>T
  hgvsp: ENSP00000461442.1:p.Ala63Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-176C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-146C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-176C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.215C>T
  hgvsp: ENSP00000322579.3:p.Ala72Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-176C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-176C>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala72Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

17-7140032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140032
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140032
    reference: chr 17
allele count: 2
allele frequency: 1.671290570578601e-5
allele num: 119668
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.214G>A
  hgvsp: ENSP00000322579.3:p.Ala72Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-177G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.202G>A
  hgvsp: ENSP00000414607.2:p.Ala68Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.226G>A
  hgvsp: ENSP00000458416.1:p.Ala76Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-177G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.187G>A
  hgvsp: ENSP00000461442.1:p.Ala63Thr
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.314G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-177G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-177G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-147G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.294G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-177G>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala72Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

17-7140033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140033
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140033
    reference: chr 17
allele count: 5
allele frequency: 4.181371155229223e-5
allele num: 119578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-148G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-178G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.213G>A
  hgvsp: ENST00000320316.3:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-178G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.201G>A
  hgvsp: ENST00000454255.2:c.201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-178G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-178G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.225G>A
  hgvsp: ENST00000570899.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.186G>A
  hgvsp: ENST00000573826.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-178G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.313G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.293G>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22339
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala71Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

17-7140034-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140034
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140034
    reference: chr 17
allele count: 1
allele frequency: 8.367220576668843e-6
allele num: 119514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.312C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.224C>T
  hgvsp: ENSP00000458416.1:p.Ala75Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-179C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-179C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-179C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.200C>T
  hgvsp: ENSP00000414607.2:p.Ala67Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-149C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-179C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-179C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.212C>T
  hgvsp: ENSP00000322579.3:p.Ala71Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.185C>T
  hgvsp: ENSP00000461442.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.292C>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala71Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-7140036-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140036
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140036
    reference: chr 17
allele count: 3
allele frequency: 2.511889610824569e-5
allele num: 119432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-181T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-181T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-151T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.183T>C
  hgvsp: ENST00000573826.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.290T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-181T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.310T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-181T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.210T>C
  hgvsp: ENST00000320316.3:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.198T>C
  hgvsp: ENST00000454255.2:c.198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.222T>C
  hgvsp: ENST00000570899.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-181T>C
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser70Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

17-7140049-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140049
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140049
    reference: chr 17
allele count: 1
allele frequency: 8.433694295449179e-6
allele num: 118572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.277T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.170T>C
  hgvsp: ENSP00000461442.1:p.Leu57Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-194T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-194T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-164T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-194T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-194T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-194T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.209T>C
  hgvsp: ENSP00000458416.1:p.Leu70Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.197T>C
  hgvsp: ENSP00000322579.3:p.Leu66Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.185T>C
  hgvsp: ENSP00000414607.2:p.Leu62Ser
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.297T>C
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu66Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

17-7140060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140060
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140060
    reference: chr 17
allele count: 10
allele frequency: 8.523695874531196e-5
allele num: 117320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.174C>T
  hgvsp: ENST00000454255.2:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.286C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-205C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-205C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.186C>T
  hgvsp: ENST00000320316.3:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.159C>T
  hgvsp: ENST00000573826.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.198C>T
  hgvsp: ENST00000570899.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-205C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-205C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-175C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.266C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-205C>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21336
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser62Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-7140063-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140063
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140063
    reference: chr 17
allele count: 13
allele frequency: 1.1138910785893e-4
allele num: 116708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.171C>T
  hgvsp: ENST00000454255.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.263C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.195C>T
  hgvsp: ENST00000570899.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.156C>T
  hgvsp: ENST00000573826.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-208C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-208C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-208C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.183C>T
  hgvsp: ENST00000320316.3:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.283C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-208C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-208C>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-178C>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21073
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly61Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-7140080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140080
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140080
    reference: chr 17
allele count: 1
allele frequency: 8.795848359574281e-6
allele num: 113690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.246G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.178G>A
  hgvsp: ENSP00000458416.1:p.Asp60Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-225G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-225G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-225G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.166G>A
  hgvsp: ENSP00000322579.3:p.Asp56Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-225G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.154G>A
  hgvsp: ENSP00000414607.2:p.Asp52Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-195G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.266G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.139G>A
  hgvsp: ENSP00000461442.1:p.Asp47Asn
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-225G>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp56Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-7140081-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140081
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140081
    reference: chr 17
allele count: 1
allele frequency: 8.819430970313796e-6
allele num: 113386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-226T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-226T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.177T>C
  hgvsp: ENST00000570899.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.138T>C
  hgvsp: ENST00000573826.1:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.245T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.165T>C
  hgvsp: ENST00000320316.3:c.165T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.153T>C
  hgvsp: ENST00000454255.2:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-226T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-196T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-226T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.265T>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-226T>C
  variant of: http://identifiers.org/hgnc/28428
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.245T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-7140083-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140083
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140083
    reference: chr 17
allele count: 3
allele frequency: 2.649802148106275e-5
allele num: 113216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.151A>G
  hgvsp: ENSP00000414607.2:p.Ser51Gly
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.136A>G
  hgvsp: ENSP00000461442.1:p.Ser46Gly
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.245-2A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-228A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.163A>G
  hgvsp: ENSP00000322579.3:p.Ser55Gly
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-228A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.175A>G
  hgvsp: ENSP00000458416.1:p.Ser59Gly
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-198A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-228A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.263A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-228A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-228A>G
  variant of: http://identifiers.org/hgnc/28428
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.245-2A>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-7140093-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140093
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140093
    reference: chr 17
allele count: 1
allele frequency: 8.975693821132374e-6
allele num: 111412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.160-7T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.133-7T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-231-7T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.148-7T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-231-7T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-231-7T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-231-7T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-231-7T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-208T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.260-7T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.245-12T>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.172-7T>G
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.160-7T>G
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

17-7140093-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140093
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140092
    reference: chr 17
allele count: 1
allele frequency: 8.975693821132374e-6
allele num: 111412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.260-8delC
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.160-8delC
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-231-8delC
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-231-8delC
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-209delC
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.148-8delC
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-231-8delC
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.172-8delC
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.245-13delC
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.133-8delC
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-231-8delC
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-231-8delC
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13989
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.160-8delC
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: AG
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

17-7140105-C-CCAGGGTCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140105
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140114
    reference: chr 17
allele count: 3
allele frequency: 2.763296059539819e-5
allele num: 108566
alternate allele: CCAGGGTCAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-7140107-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140107
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140107
    reference: chr 17
allele count: 2
allele frequency: 1.851577544067546e-5
allele num: 108016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-231-21T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-231-21T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-231-21T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-231-21T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.148-21T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-222T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.133-21T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.172-21T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-231-21T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.245-26T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.260-21T>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.160-21T>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-7140108-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140108
    reference: chr 17
allele count: 1
allele frequency: 9.259602207489166e-6
allele num: 107996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-231-22C>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-231-22C>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.245-27C>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.160-22C>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-231-22C>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.260-22C>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.133-22C>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.172-22C>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-223C>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-231-22C>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.148-22C>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-231-22C>G
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

17-7140122-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140122
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140122
    reference: chr 17
allele count: 1
allele frequency: 9.501548752446648e-6
allele num: 105246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.148-36G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-231-36G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-231-36G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.133-36G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-237G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-231-36G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.245-41G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-231-36G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.160-36G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.172-36G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.260-36G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-231-36G>C
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

17-7140126-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140126
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140126
    reference: chr 17
allele count: 3
allele frequency: 2.867630190410645e-5
allele num: 104616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-231-40A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.148-40A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.160-40A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.133-40A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-231-40A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.172-40A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.245-45A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-231-40A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-231-40A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-241A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.260-40A>G
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-231-40A>G
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10230
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

17-7140134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140134
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140134
    reference: chr 17
allele count: 1
allele frequency: 9.710623422023694e-6
allele num: 102980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.172-48G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-231-48G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-231-48G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.245-53G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.160-48G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.260-48G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-231-48G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.133-48G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-231-48G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-231-48G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.148-48G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-249G>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-7140137-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140137
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140137
    reference: chr 17
allele count: 1
allele frequency: 9.743739647276625e-6
allele num: 102630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-252G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-231-51G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-231-51G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-231-51G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.160-51G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.245-56G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-231-51G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.172-51G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-231-51G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.148-51G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.260-51G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.133-51G>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

17-7140138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140138
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140138
    reference: chr 17
allele count: 1
allele frequency: 9.743739647276625e-6
allele num: 102630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.148-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.260-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.133-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.172-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-231-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.245-57G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.160-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-231-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-231-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-231-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-231-52G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.160-253G>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

17-7140653-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140653
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140653
    reference: chr 17
allele count: 2
allele frequency: 1.695116369738783e-5
allele num: 117986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.147+51G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.132+51G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.159+51G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.259+51G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-232+51G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-232+51G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.244+51G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-232+51G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.159+51G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.171+51G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-232+51G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-232+51G>C
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-7140662-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140662
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140662
    reference: chr 17
allele count: 2
allele frequency: 1.694484453105143e-5
allele num: 118030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-232+42G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.159+42G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.259+42G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-232+42G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.171+42G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-232+42G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-232+42G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.147+42G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-232+42G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.132+42G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.244+42G>T
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.159+42G>T
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

17-7140662-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140662
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140662
    reference: chr 17
allele count: 2
allele frequency: 1.694484453105143e-5
allele num: 118030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.159+42G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.159+42G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-232+42G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.244+42G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-232+42G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-232+42G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.171+42G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-232+42G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.147+42G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-232+42G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.132+42G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.259+42G>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

17-7140664-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140664
    reference: chr 17
allele count: 1
allele frequency: 8.455515532782033e-6
allele num: 118266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-232+40G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.159+40G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.244+40G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-232+40G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.147+40G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.171+40G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-232+40G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.132+40G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-232+40G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-232+40G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.259+40G>C
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.159+40G>C
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-7140669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7140669
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7140669
    reference: chr 17
allele count: 1
allele frequency: 8.45508658008658e-6
allele num: 118272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000570753
  gene symbol: PHF23
  hgvsc: ENST00000570753.1:n.259+35G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460738
  ensembl transcript: ENST00000571362
  gene symbol: PHF23
  hgvsc: ENST00000571362.1:c.159+35G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459904
  ensembl transcript: ENST00000574407
  gene symbol: PHF23
  hgvsc: ENST00000574407.1:c.-232+35G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458416
  ensembl transcript: ENST00000570899
  gene symbol: PHF23
  hgvsc: ENST00000570899.1:c.171+35G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458953
  ensembl transcript: ENST00000576955
  gene symbol: PHF23
  hgvsc: ENST00000576955.1:c.-232+35G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000414607
  ensembl transcript: ENST00000454255
  gene symbol: PHF23
  hgvsc: ENST00000454255.2:c.147+35G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000461442
  ensembl transcript: ENST00000573826
  gene symbol: PHF23
  hgvsc: ENST00000573826.1:c.132+35G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000460876
  ensembl transcript: ENST00000572789
  gene symbol: PHF23
  hgvsc: ENST00000572789.1:c.-232+35G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl transcript: ENST00000574899
  gene symbol: PHF23
  hgvsc: ENST00000574899.1:n.244+35G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000322579
  ensembl transcript: ENST00000320316
  gene symbol: PHF23
  hgvsc: ENST00000320316.3:c.159+35G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000458401
  ensembl transcript: ENST00000574236
  gene symbol: PHF23
  hgvsc: ENST00000574236.1:c.-232+35G>A
  variant of: http://identifiers.org/hgnc/28428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000040633
  ensembl protein: ENSP00000459983
  ensembl transcript: ENST00000574323
  gene symbol: PHF23
  hgvsc: ENST00000574323.1:c.-232+35G>A
  variant of: http://identifiers.org/hgnc/28428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23210
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C

GenotypeQuality
all individuals: 3118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7303
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.195e1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

FS
type: SiteQuality
SIO_000300: 7.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 1.891501e6

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7346
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4185
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3257
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50952510340247e-5
allele num: 66246
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 5.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

QD
type: SiteQuality
SIO_000300: 1.479e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

DP
type: SiteQuality
SIO_000300: 1.894542e6

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3104
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.059732234809475e-4
allele num: 9710
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.461405330564209e-4
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 189
allele frequency: 2.853002445430667e-3
allele num: 66246
num of homozygotes: 1

South Asian
type: Population
allele count: 30
allele frequency: 1.818402230573403e-3
allele num: 16498
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 57
allele frequency: 8.633747349288094e-3
allele num: 6602
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.464285714285714e-3
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 5.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

DP
type: SiteQuality
SIO_000300: 1.894542e6

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4185
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3104
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019050206804939e-5
allele num: 66246
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

QD
type: SiteQuality
SIO_000300: 1.479e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

DP
type: SiteQuality
SIO_000300: 1.894542e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.95e0

GenotypeQuality
all individuals: 389
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.528028496392671e-5
allele num: 66254
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 1.878607e6

VQSLOD
type: SiteQuality
SIO_000300: 2.32e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.213e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

QD
type: SiteQuality
SIO_000300: 1.551e1

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3116
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8447
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.8791e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.321e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

FS
type: SiteQuality
SIO_000300: 1.974e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

GenotypeQuality
all individuals: 1467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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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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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3272
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507386192342478e-5
allele num: 66340
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 3.421e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.751e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.879506e6

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 8439
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.089e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.879498e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.542e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.628e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.29e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

GenotypeQuality
all individuals: 350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7084
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3112
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507340749449821e-5
allele num: 66342
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.698e0

QD
type: SiteQuality
SIO_000300: 1.178e1

DP
type: SiteQuality
SIO_000300: 1.879889e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.296e0

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29867
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7082
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.709e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.44e-1

DP
type: SiteQuality
SIO_000300: 1.881831e6

MQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 4.694e0

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.024800163968026e-4
allele num: 9758
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.578e0

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 3.066e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.624e1

DP
type: SiteQuality
SIO_000300: 1.88299e6

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
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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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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

East Asian
type: Population
allele count: 93
allele frequency: 1.0811439200186e-2
allele num: 8602
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.884954e6

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

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: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.880165e6

QD
type: SiteQuality
SIO_000300: 1.185e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8523
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

DP
type: SiteQuality
SIO_000300: 1.88022e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.23e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

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

GenotypeQuality
all individuals: 30274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 9.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.017e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.26e1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

DP
type: SiteQuality
SIO_000300: 1.880712e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.881716e6

VQSLOD
type: SiteQuality
SIO_000300: -2.017e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.4729e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.534e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.881804e6

FS
type: SiteQuality
SIO_000300: 2.682e0

QD
type: SiteQuality
SIO_000300: 1.312e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.762e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.61e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 4212
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 1460
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.948733323339829e-4
allele num: 66710
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.339e1

DP
type: SiteQuality
SIO_000300: 1.883973e6

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.886e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

DP
type: SiteQuality
SIO_000300: 1.883213e6

FS
type: SiteQuality
SIO_000300: 4.261e0

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.195e0

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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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.349e1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.883027e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.98e-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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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 num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.196e0

FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6987
bin: 9.75e1
variant carriers: 4

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

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

FS
type: SiteQuality
SIO_000300: 1.118e0

DP
type: SiteQuality
SIO_000300: 1.883364e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

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

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

DP
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BaseQRankSum
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VQSLOD
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ReadPosRankSum
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SIO_000300: 3.83e-1

FS
type: SiteQuality
SIO_000300: 1.753e0

MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.492208103572285e-5
allele num: 66736
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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SIO_000300: 1.19e0

ClippingRankSum
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SIO_000300: -4.57e-1

InbreedingCoeff
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SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.122e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.883257e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 1.122e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 7.239e0

DP
type: SiteQuality
SIO_000300: 1.88264e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.35e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

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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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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
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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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Latino
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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

Other
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num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.388e1

DP
type: SiteQuality
SIO_000300: 1.882525e6

FS
type: SiteQuality
SIO_000300: 1.371e0

VQSLOD
type: SiteQuality
SIO_000300: 8.080000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.414e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3270
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 2156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8534
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 22
allele frequency: 1.900483759502419e-3
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 1.884062e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
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SIO_000300: 3.04e0

QD
type: SiteQuality
SIO_000300: 1.329e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.068e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.934e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.96e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 1.881471e6

GenotypeDepth
all individuals: 40
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6334
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variant carriers: 0

GenotypeQuality
all individuals: 3130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6945
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8527
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.880854e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.331e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4211
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 6945
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1457
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.996641880546894e-5
allele num: 66704
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
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SIO_000300: -3.694e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.881066e6

FS
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

GenotypeDepth
all individuals: 1699
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variant carriers: 0

GenotypeDepth
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3123
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 40
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6943
bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504504504504505e-5
allele num: 66600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

DP
type: SiteQuality
SIO_000300: 1.877909e6

FS
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.112e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4200
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66432
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.871311e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.94e0

QD
type: SiteQuality
SIO_000300: 1.2e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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
all individuals: 49
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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: 3

GenotypeQuality
all individuals: 77
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505434618974498e-5
allele num: 66426
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.871116e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeDepth
all individuals: 3200
bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29962
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.652e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.968e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
SIO_000300: 1.870504e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

FS
type: SiteQuality
SIO_000300: 7.141e0

QD
type: SiteQuality
SIO_000300: 1.022e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4196
bin: 7.75e1
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GenotypeQuality
all individuals: 6934
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506568639267205e-5
allele num: 66376
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.294e0

QD
type: SiteQuality
SIO_000300: 1.196e1

BaseQRankSum
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SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
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SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.407e0

DP
type: SiteQuality
SIO_000300: 1.869892e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1456
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variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.084e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

InbreedingCoeff
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SIO_000300: 6.4e-3

BaseQRankSum
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SIO_000300: -3.468e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

DP
type: SiteQuality
SIO_000300: 1.868269e6

QD
type: SiteQuality
SIO_000300: 1.331e1

FS
type: SiteQuality
SIO_000300: 1.251e0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-1

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8358
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2156
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variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 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: 9592
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: 16450
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.129e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

VQSLOD
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SIO_000300: -1.011e0

ClippingRankSum
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SIO_000300: -5.19e-1

MQ
type: SiteQuality
SIO_000300: 5.869e1

FS
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SIO_000300: 1.403e0

DP
type: SiteQuality
SIO_000300: 1.859896e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3257
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variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66044
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

DP
type: SiteQuality
SIO_000300: 1.859816e6

VQSLOD
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SIO_000300: 1.52e0

MQRankSum
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SIO_000300: 7.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.29e1

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8356
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029660375071954e-5
allele num: 66014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
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: 11564
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.858931e6

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.882e0

QD
type: SiteQuality
SIO_000300: 1.105e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29276
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030854094683882e-5
allele num: 65988
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.857897e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

FS
type: SiteQuality
SIO_000300: 3.423e0

BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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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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BaseQRankSum
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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QD
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FS
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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South Asian
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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QD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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Other
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African
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European (Non-Finnish)
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South Asian
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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QD
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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African
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Latino
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European (Non-Finnish)
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South Asian
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Other
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MQ
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DP
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QD
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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African
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European (Non-Finnish)
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Other
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Latino
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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QD
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BaseQRankSum
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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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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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East Asian
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South Asian
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DP
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VQSLOD
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FS
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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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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63048
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

Other
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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num of homozygotes: 0

East Asian
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allele count: 1
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allele num: 8484
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South Asian
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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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
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SIO_000300: 1.53e0

MQRankSum
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QD
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BaseQRankSum
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MQ
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SIO_000300: 5.957e1

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.013e0

DP
type: SiteQuality
SIO_000300: 1.762148e6

ReadPosRankSum
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SIO_000300: 3.01e-1

GenotypeDepth
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variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13994
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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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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allele count: 3
allele frequency: 4.762660739799968e-5
allele num: 62990
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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SIO_000300: 4.25e0

ReadPosRankSum
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SIO_000300: -1.49e-1

BaseQRankSum
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SIO_000300: 3.3e0

MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.759472e6

QD
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SIO_000300: 1.733e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.145737855178735e-4
allele num: 8728
num of homozygotes: 0

Other
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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num of homozygotes: 0

South Asian
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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

East Asian
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allele count: 0
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Latino
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

ClippingRankSum
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FS
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SIO_000300: 2.052e0

MQRankSum
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DP
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SIO_000300: 1.732949e6

BaseQRankSum
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SIO_000300: 2.52e-1

QD
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SIO_000300: 1.132e1

MQ
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SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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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: 7.6057195010648e-5
allele num: 13148
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8728
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62276
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8438
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

Other
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ReadPosRankSum
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SIO_000300: 9.3e-1

InbreedingCoeff
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SIO_000300: 3.9e-3

BaseQRankSum
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DP
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SIO_000300: 1.732949e6

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

QD
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FS
type: SiteQuality
SIO_000300: 2.052e0

ClippingRankSum
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SIO_000300: 7.55e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
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SIO_000300: 2.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6558
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.916581992199023e-5
allele num: 61018
num of homozygotes: 0

Other
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DP
type: SiteQuality
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: 8.66e-1

BaseQRankSum
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SIO_000300: 9.81e-1

GenotypeDepth
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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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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: 1.644304130491976e-5
allele num: 60816
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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African
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allele frequency: 1.177578897786152e-4
allele num: 8492
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.962e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

Latino
type: Population
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
allele num: 8306
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
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allele num: 60804
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Other
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South Asian
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.201634222542658e-4
allele num: 8322
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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East 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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European (Non-Finnish)
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.899e1

ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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SIO_000300: 9.34e0

MQRankSum
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SIO_000300: 1.2e0

InbreedingCoeff
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DP
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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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: 5.066540566101466e-5
allele num: 59212
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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MQ
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VQSLOD
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele 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: 1.713208840157615e-5
allele num: 58370
num of homozygotes: 0

East Asian
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South Asian
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Other
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Latino
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

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

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

European (Finnish)
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Latino
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South Asian
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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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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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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East 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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European (Non-Finnish)
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allele num: 58168
num of homozygotes: 0

Other
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num of homozygotes: 0

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

African
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Latino
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num of homozygotes: 0

Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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DP
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MQ
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 66002
num of homozygotes: 0

African
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European (Finnish)
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South Asian
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East Asian
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Latino
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Other
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FS
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 247
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030211205721039e-5
allele num: 66002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.150625e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.357e1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.642e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 7.93e-1

GenotypeDepth
all individuals: 693
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53232
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14788
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

FS
type: SiteQuality
SIO_000300: 2.276e0

DP
type: SiteQuality
SIO_000300: 5.151869e6

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.55e0

GenotypeDepth
all individuals: 3997
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53230
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513867021920794e-5
allele num: 66056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14780
num of homozygotes: 0

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